Aliases & Classifications for Hypertelorism

MalaCards integrated aliases for Hypertelorism:

Name: Hypertelorism 56 29 6 32

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant


HPO:

31
hypertelorism:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 56 145400
ICD10 32 Q75.2
MedGen 41 C0020534
SNOMED-CT via HPO 68 194021007 22006008 263681008

Summaries for Hypertelorism

OMIM : 56 Although hypertelorism means an excessive distance between any paired organs (e.g., the nipples), the use of the word has come to be confined to ocular hypertelorism. Hypertelorism occurs as an isolated feature and is also a feature of many syndromes, e.g., Opitz G syndrome (145410), Greig cephalopolysyndactyly (175700), and Noonan syndrome (163950) (summary by Cohen et al., 1995). (145400)

MalaCards based summary : Hypertelorism is related to hypertelorism, microtia, facial clefting syndrome and saethre-chotzen syndrome. An important gene associated with Hypertelorism is FGFR2 (Fibroblast Growth Factor Receptor 2), and among its related pathways/superpathways are Developmental Biology and Neural Crest Differentiation. The drugs tannic acid and Benzocaine have been mentioned in the context of this disorder. Affiliated tissues include eye, bone and heart, and related phenotypes are hypertelorism and mortality/aging

Wikipedia : 74 Hypertelorism is an abnormally increased distance between two organs or bodily parts, usually referring... more...

Related Diseases for Hypertelorism

Diseases related to Hypertelorism via text searches within MalaCards or GeneCards Suite gene sharing:

(showing 467, show less)
# Related Disease Score Top Affiliating Genes
1 hypertelorism, microtia, facial clefting syndrome 34.6 TWIST1 FGFR2
2 saethre-chotzen syndrome 33.5 TWIST1 FGFR2 EFNB1
3 apert syndrome 32.5 TWIST1 FGFR2 EFNB1
4 crouzon syndrome 32.2 TWIST1 FGFR2 EFNB1
5 hypospadias 31.4 SPECC1L MID1 FGFR2
6 dysostosis 31.2 TWIST1 SPECC1L FGFR2 EFNB1
7 craniosynostosis 31.1 TWIST1 SPECC1L FGFR2 EFNB1
8 synostosis 30.7 TWIST1 FGFR2 EFNB1
9 chromosome 2q35 duplication syndrome 30.6 TWIST1 FGFR2 EFNB1
10 ptosis 30.6 TWIST1 SPECC1L PAX6 MYH10 ANKRD11
11 farsightedness 30.5 NSD1 ANKRD11
12 coloboma of iris 30.2 TFAP2A PAX6
13 cleft palate, isolated 30.1 TWIST1 TFAP2A SPECC1L NSD1 FGFR2
14 strabismus 29.9 TWIST1 POGZ PAX6 MED13L FGFR2
15 vesicoureteral reflux 1 29.5 RET MED13L FGFR2
16 cornelia de lange syndrome 29.4 POGZ MED13L MECP2 ANKRD11
17 scoliosis 29.3 NSD1 MED13L MECP2 FGFR2 ELN COL1A1
18 esotropia 29.3 TFAP2A PAX6 ANKRD11
19 visual epilepsy 29.2 SCN1A POGZ NSD1 MECP2 ANKRD11
20 alacrima, achalasia, and mental retardation syndrome 29.1 SCN1A MED13L MECP2 ANKRD11
21 microcephaly 28.3 TWIST1 SCN1A RET POGZ PAX6 NSD1
22 hypertelorism, teebi type 12.6
23 intellectual developmental disorder with hypertelorism and distinctive facies 12.4
24 hypertelorism, preauricular sinus, punctal pits, and deafness 12.4
25 intellectual deficit - short stature - hypertelorism 12.4
26 hypertelorism and tetralogy of fallot 12.3
27 hypertelorism and other facial dysmorphism, brachydactyly, genital abnormalities, mental retardation, and recurrent inflammatory episodes 12.3
28 intellectual disability-short stature-hypertelorism syndrome 12.2
29 donnai-barrow syndrome 12.2
30 corpus callosum agenesis-macrocephaly-hypertelorism syndrome 12.1
31 opitz-gbbb syndrome 12.1
32 opitz gbbb syndrome, type ii 12.1
33 opitz gbbb syndrome, type i 12.0
34 baraitser-winter syndrome 1 12.0
35 baraitser-winter syndrome 12.0
36 acrofrontofacionasal dysostosis 2 12.0
37 hamamy syndrome 12.0
38 elsahy-waters syndrome 12.0
39 gastrocutaneous syndrome 11.9
40 hartsfield syndrome 11.8
41 seaver cassidy syndrome 11.8
42 craniofacial-deafness-hand syndrome 11.7
43 noonan syndrome with multiple lentigines 11.7
44 mandibulofacial dysostosis with macroblepharon and macrostomia 11.7
45 wolf-hirschhorn syndrome 11.6
46 craniofrontonasal syndrome 11.6
47 frontonasal dysplasia 1 11.5
48 axenfeld-rieger anomaly with partially absent eye muscles, distinctive face, hydrocephaly, and skeletal abnormalities 11.4
49 external auditory canal, bilateral atresia of, with congenital vertical talus 11.4
50 bagatelle cassidy syndrome 11.4
51 santos mateus leal syndrome 11.4
52 sotos syndrome 1 11.4
53 acromelic frontonasal dysostosis 11.4
54 telecanthus 11.4
55 noonan syndrome 1 11.3
56 oculodentodigital dysplasia 11.3
57 3mc syndrome 1 11.3
58 3mc syndrome 2 11.3
59 opitz-kaveggia syndrome 11.3
60 gillessen-kaesbach-nishimura syndrome 11.2
61 krauss herman holmes syndrome 11.2
62 greig cephalopolysyndactyly syndrome 11.2
63 aniridia, partial, with unilateral renal agenesis and psychomotor retardation 11.2
64 lubs x-linked mental retardation syndrome 11.2
65 axenfeld-rieger syndrome, type 3 11.2
66 bohring-opitz syndrome 11.2
67 frontonasal dysplasia 2 11.2
68 baraitser-winter syndrome 2 11.2
69 diamond-blackfan anemia 11.2
70 lateral meningocele syndrome 11.1
71 ritscher-schinzel syndrome 1 11.1
72 frank-ter haar syndrome 11.1
73 keipert syndrome 11.1
74 noonan syndrome-like disorder with loose anagen hair 1 11.1
75 loeys-dietz syndrome 11.1
76 say carpenter syndrome 11.1
77 vagneur triolle ripert syndrome 11.1
78 larsen syndrome 11.1
79 cleft, median, of upper lip with polyps of facial skin and nasal mucosa 11.1
80 neu-laxova syndrome 1 11.1
81 weaver syndrome 11.1
82 neurofibromatosis-noonan syndrome 11.1
83 loeys-dietz syndrome 1 11.1
84 sweeney-cox syndrome 11.1
85 3mc syndrome 11.1
86 acrofrontofacionasal dysostosis 11.1
87 atelosteogenesis, type i 11.0
88 blepharocheilodontic syndrome 1 11.0
89 kbg syndrome 11.0
90 lenz-majewski hyperostotic dwarfism 11.0
91 leopard syndrome 1 11.0
92 marshall syndrome 11.0
93 skin creases, congenital symmetric circumferential, 1 11.0
94 osteoglophonic dysplasia 11.0
95 prolidase deficiency 11.0
96 shprintzen-goldberg craniosynostosis syndrome 11.0
97 arthrogryposis, distal, type 2a 11.0
98 acrocallosal syndrome 11.0
99 geleophysic dysplasia 1 11.0
100 hyperphosphatasia with mental retardation syndrome 1 11.0
101 woodhouse-sakati syndrome 11.0
102 3mc syndrome 3 11.0
103 manitoba oculotrichoanal syndrome 11.0
104 orofaciodigital syndrome ix 11.0
105 peroxisomal acyl-coa oxidase deficiency 11.0
106 roberts syndrome 11.0
107 robinow syndrome, autosomal recessive 1 11.0
108 galloway-mowat syndrome 2, x-linked 11.0
109 aarskog-scott syndrome 11.0
110 mesomelia-synostoses syndrome 11.0
111 oculoauriculofrontonasal syndrome 11.0
112 diaphanospondylodysostosis 11.0
113 burn-mckeown syndrome 11.0
114 frias syndrome 11.0
115 kleefstra syndrome 1 11.0
116 mental retardation, autosomal dominant 22 11.0
117 chromosome 2p16.1-p15 deletion syndrome 11.0
118 loeys-dietz syndrome 3 11.0
119 chromosome 16q22 deletion syndrome 11.0
120 bent bone dysplasia syndrome 11.0
121 xia-gibbs syndrome 11.0
122 smith-kingsmore syndrome 11.0
123 shashi-pena syndrome 11.0
124 galloway-mowat syndrome 3 11.0
125 galloway-mowat syndrome 4 11.0
126 galloway-mowat syndrome 5 11.0
127 snijders blok-campeau syndrome 11.0
128 noonan syndrome 12 11.0
129 hennekam syndrome 11.0
130 chromosome 15q24 deletion syndrome 11.0
131 simpson-golabi-behmel syndrome 11.0
132 hajdu-cheney syndrome 10.8
133 atelosteogenesis, type iii 10.8
134 branchiooculofacial syndrome 10.8
135 cardiofaciocutaneous syndrome 1 10.8
136 cleidocranial dysplasia 10.8
137 craniometaphyseal dysplasia, autosomal dominant 10.8
138 cri-du-chat syndrome 10.8
139 cyprus facial neuromusculoskeletal syndrome 10.8
140 jacobsen syndrome 10.8
141 membranous cranial ossification, delayed 10.8
142 chromosome 9p deletion syndrome 10.8
143 recombinant chromosome 8 syndrome 10.8
144 robinow-sorauf syndrome 10.8
145 acrocephalopolydactylous dysplasia 10.8
146 acrocraniofacial dysostosis 10.8
147 gillespie syndrome 10.8
148 aspartylglucosaminuria 10.8
149 camptodactyly with muscular hypoplasia, skeletal dysplasia, and abnormal palmar creases 10.8
150 cenani-lenz syndactyly syndrome 10.8
151 joubert syndrome 1 10.8
152 craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome 10.8
153 otospondylomegaepiphyseal dysplasia, autosomal recessive 10.8
154 corpus callosum, agenesis of, with facial anomalies and robin sequence 10.8
155 agenesis of the corpus callosum with peripheral neuropathy 10.8
156 crane-heise syndrome 10.8
157 craniostenosis, sagittal, with congenital heart disease, mental deficiency, and mandibular ankylosis 10.8
158 baller-gerold syndrome 10.8
159 leigh syndrome, french canadian type 10.8
160 dubowitz syndrome 10.8
161 focal facial dermal dysplasia 3, setleis type 10.8
162 frontofacionasal dysplasia 10.8
163 fryns syndrome 10.8
164 gapo syndrome 10.8
165 mowat-wilson syndrome 10.8
166 kaufman oculocerebrofacial syndrome 10.8
167 mental retardation, buenos aires type 10.8
168 galloway-mowat syndrome 1 10.8
169 lissencephaly 2 10.8
170 oculodentodigital dysplasia, autosomal recessive 10.8
171 orofaciodigital syndrome iii 10.8
172 orofaciodigital syndrome iv 10.8
173 multicentric osteolysis, nodulosis, and arthropathy 10.8
174 cousin syndrome 10.8
175 d-bifunctional protein deficiency 10.8
176 pseudodiastrophic dysplasia 10.8
177 schinzel-giedion midface retraction syndrome 10.8
178 spondylometaepiphyseal dysplasia, short limb-hand type 10.8
179 white forelock with malformations 10.8
180 orofaciodigital syndrome viii 10.8
181 mental retardation and microcephaly with pontine and cerebellar hypoplasia 10.8
182 meester-loeys syndrome 10.8
183 alpha-thalassemia/mental retardation syndrome, x-linked 10.8
184 coffin-lowry syndrome 10.8
185 otopalatodigital syndrome, type ii 10.8
186 heterotaxy, visceral, 1, x-linked 10.8
187 orofaciodigital syndrome i 10.8
188 otopalatodigital syndrome, type i 10.8
189 aminopterin syndrome sine aminopterin 10.8
190 fryns microphthalmia syndrome 10.8
191 ehlers-danlos syndrome, musculocontractural type, 1 10.8
192 poikiloderma with neutropenia 10.8
193 wiedemann-steiner syndrome 10.8
194 noonan syndrome 2 10.8
195 cerebrooculonasal syndrome 10.8
196 fumarase deficiency 10.8
197 al-gazali-bakalinova syndrome 10.8
198 bifid nose with or without anorectal and renal anomalies 10.8
199 scaphocephaly, maxillary retrusion, and mental retardation 10.8
200 parietal foramina 2 10.8
201 noonan syndrome 3 10.8
202 loeys-dietz syndrome 2 10.8
203 noonan syndrome 4 10.8
204 potocki-lupski syndrome 10.8
205 legius syndrome 10.8
206 noonan syndrome 5 10.8
207 leopard syndrome 2 10.8
208 temple-baraitser syndrome 10.8
209 noonan syndrome 6 10.8
210 frontonasal dysplasia 3 10.8
211 noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia 10.8
212 cranioectodermal dysplasia 2 10.8
213 noonan syndrome 7 10.8
214 leopard syndrome 3 10.8
215 chromosome 3pter-p25 deletion syndrome 10.8
216 geleophysic dysplasia 2 10.8
217 microcephaly-capillary malformation syndrome 10.8
218 loeys-dietz syndrome 4 10.8
219 mental retardation, autosomal dominant 18 10.8
220 steel syndrome 10.8
221 noonan syndrome 8 10.8
222 loeys-dietz syndrome 5 10.8
223 neu-laxova syndrome 2 10.8
224 mental retardation, autosomal dominant 30 10.8
225 catel-manzke syndrome 10.8
226 robinow syndrome, autosomal dominant 2 10.8
227 white-sutton syndrome 10.8
228 noonan syndrome 9 10.8
229 noonan syndrome 10 10.8
230 seizures, scoliosis, and macrocephaly/microcephaly syndrome 10.8
231 perching syndrome 10.8
232 chitayat syndrome 10.8
233 congenital heart defects, dysmorphic facial features, and intellectual developmental disorder 10.8
234 noonan syndrome-like disorder with loose anagen hair 2 10.8
235 geleophysic dysplasia 3 10.8
236 intellectual developmental disorder with cardiac defects and dysmorphic facies 10.8
237 galloway-mowat syndrome 6 10.8
238 galloway-mowat syndrome 7 10.8
239 galloway-mowat syndrome 8 10.8
240 developmental delay with or without dysmorphic facies and autism 10.8
241 noonan syndrome 11 10.8
242 robinow syndrome, autosomal recessive 2 10.8
243 intellectual developmental disorder with nasal speech, dysmorphic facies, and variable skeletal anomalies 10.8
244 intellectual developmental disorder with impaired language and dysmorphic facies 10.8
245 cebalid syndrome 10.8
246 imagawa-matsumoto syndrome 10.8
247 qazi markouizos syndrome 10.8
248 midface dysplasia 10.8
249 robinow syndrome 10.8
250 chromosome 17q11.2 deletion syndrome 10.8
251 ritscher-schinzel syndrome 10.8
252 multiple congenital anomalies-hypotonia-seizures syndrome 10.8
253 larsen-like syndrome b3gat3 type 10.8
254 kleefstra syndrome 10.8
255 geleophysic dysplasia 10.8
256 axenfeld-rieger syndrome 10.8
257 rhizomelic chondrodysplasia punctata 10.8
258 orofaciodigital syndrome 10.8
259 49, xxxxx 10.8
260 47,xyy 10.8
261 1q44 microdeletion syndrome 10.8
262 20p12.3 microdeletion syndrome 10.8
263 48,xxxy syndrome 10.8
264 49, xxxxy syndrome 10.8
265 aortic arch anomaly - peculiar facies - intellectual disability 10.8
266 arachnodactyly - intellectual disability - dysmorphism 10.8
267 autosomal dominant intellectual disability 30 10.8
268 bamforth syndrome 10.8
269 braddock jones superneau syndrome 10.8
270 charlie m syndrome 10.8
271 chromosome 15, trisomy mosaicism 10.8
272 chromosome 17q deletion 10.8
273 chromosome 6q25 microdeletion syndrome 10.8
274 collins pope syndrome 10.8
275 hall-riggs syndrome 10.8
276 hivep2-related intellectual disability 10.8
277 infantile spasms broad thumbs 10.8
278 man1b1-cdg 10.8
279 neonatal adrenoleukodystrophy 10.8
280 orofaciodigital syndrome 12 10.8
281 phenobarbital antenatal exposure 10.8
282 pterygium colli mental retardation digital anomalies 10.8
283 ramos arroyo clark syndrome 10.8
284 tetrasomy 21 10.8
285 tetrasomy 9p 10.8
286 thakker-donnai syndrome 10.8
287 trisomy 22 10.8
288 white matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome 10.8
289 x-linked intellectual disability, najm type 10.8
290 10q26 deletion syndrome 10.8
291 5q31.3 microdeletion syndrome 10.8
292 ohdo syndrome, maat-kievit-brunner type 10.8
293 pacs1 syndrome 10.8
294 ppp2r5d-related intellectual disability 10.8
295 recombinant 8 syndrome 10.8
296 hemifacial hyperplasia 10.6 FGFR2 EFNB1
297 muenke syndrome 10.5 TWIST1 FGFR2 EFNB1
298 syndromic craniosynostosis 10.5 TWIST1 FGFR2
299 exposure keratitis 10.5 FGFR2 EFNB1
300 cleft lip 10.4
301 rare head and neck tumor 10.4 PIK3CA FGFR2
302 bone development disease 10.3 TWIST1 FGFR2 EFNB1 COL1A1
303 coloboma of macula 10.3
304 isolated brachycephaly 10.3 TWIST1 POGZ
305 mechanical strabismus 10.3
306 cleft lip/palate 10.3
307 branchiootic syndrome 1 10.3
308 joint laxity, short stature, and myopia 10.3
309 myopia 10.3
310 encephalocele 10.3
311 umbilical hernia 10.2
312 facial cleft 10.2
313 microtia 10.2
314 testicular spermatocytic seminoma 10.2 RET FGFR2
315 plagiocephaly 10.2 TWIST1 SCN1A FGFR2
316 widow's peak 10.2
317 cryptorchidism, unilateral or bilateral 10.2
318 polydactyly 10.2
319 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.2
320 autosomal recessive disease 10.2
321 alternating exotropia 10.2
322 exotropia 10.2
323 hypotonia 10.2
324 pfeiffer syndrome 10.1 TWIST1 FGFR2 COL1A1
325 physical disorder 10.1 PAX6 MECP2 FGFR2
326 teeth present at birth 10.1
327 intraocular pressure quantitative trait locus 10.1
328 omphalocele 10.1
329 holoprosencephaly 10.1
330 exophthalmos 10.1
331 bifid nose 10.1
332 dysphagia 10.1
333 chromosomal deletion syndrome 10.1 PAX6 MECP2 ELN
334 megalencephaly, autosomal dominant 10.0 SCN1A PIK3CA
335 keratitis, hereditary 10.0
336 pectus excavatum 10.0
337 split-hand/foot malformation 1 10.0
338 tetralogy of fallot 10.0
339 anus, imperforate 10.0
340 fraser syndrome 1 10.0
341 yemenite deaf-blind hypopigmentation syndrome 10.0
342 macrostomia, isolated 10.0
343 brachydactyly 10.0
344 fibrous dysplasia 10.0
345 microphthalmia 10.0
346 enophthalmos 10.0
347 ectropion 10.0
348 heart septal defect 10.0
349 neurofibromatosis 10.0
350 waardenburg's syndrome 10.0
351 pathologic nystagmus 10.0
352 meningoencephalocele 10.0
353 isolated split hand-split foot malformation 10.0
354 multiple congenital anomalies/dysmorphic syndrome-intellectual disability 10.0
355 van der woude syndrome 1 10.0 TFAP2A SPECC1L FGFR2
356 thyroid tumor 10.0 RET PIK3CA FGFR2
357 syndromic intellectual disability 10.0 POGZ MED13L MECP2
358 hypermobile ehlers-danlos syndrome 9.9 RET COL1A1
359 gastroesophageal reflux 9.9
360 blepharochalasis and double lip 9.9
361 cornelia de lange syndrome 1 9.9
362 fibrosis of extraocular muscles, congenital, 1 9.9
363 hair whorl 9.9
364 hernia, hiatus 9.9
365 hirschsprung disease 1 9.9
366 lacrimal duct defect 9.9
367 lentigines 9.9
368 lipomatosis, multiple 9.9
369 migraine with or without aura 1 9.9
370 pilonidal sinus 9.9
371 axenfeld-rieger syndrome, type 1 9.9
372 say syndrome 9.9
373 renal hypodysplasia/aplasia 1 9.9
374 vitiligo-associated multiple autoimmune disease susceptibility 6 9.9
375 volvulus of midgut 9.9
376 barber-say syndrome 9.9
377 bifid nose, autosomal recessive 9.9
378 chondrosarcoma 9.9
379 cleft larynx, posterior 9.9
380 cystic fibrosis 9.9
381 hirschsprung disease with polydactyly, renal agenesis, and deafness 9.9
382 hydrocephalus due to congenital stenosis of aqueduct of sylvius 9.9
383 miller-dieker lissencephaly syndrome 9.9
384 smith-lemli-opitz syndrome 9.9
385 anemia, x-linked, with or without neutropenia and/or platelet abnormalities 9.9
386 cornelia de lange syndrome 5 9.9
387 alport syndrome 1, x-linked 9.9
388 corpus callosum, partial agenesis of, x-linked 9.9
389 ataxia and polyneuropathy, adult-onset 9.9
390 cleft lip/palate with characteristic facies, intestinal malrotation, and lethal congenital heart disease 9.9
391 vitiligo-associated multiple autoimmune disease susceptibility 1 9.9
392 patent ductus arteriosus 1 9.9
393 corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia 9.9
394 alkuraya-kucinskas syndrome 9.9
395 cortical dysplasia, complex, with other brain malformations 10 9.9
396 deficiency anemia 9.9
397 lennox-gastaut syndrome 9.9
398 atrioventricular block 9.9
399 sclerocornea 9.9
400 porencephaly 9.9
401 cardiac arrest 9.9
402 inguinal hernia 9.9
403 gingival fibromatosis 9.9
404 cerebellar hypoplasia 9.9
405 metaphyseal dysplasia 9.9
406 sensorineural hearing loss 9.9
407 pleomorphic lipoma 9.9
408 monocular esotropia 9.9
409 blepharophimosis 9.9
410 suppression amblyopia 9.9
411 amblyopia 9.9
412 charcot-marie-tooth disease 9.9
413 hydrocephalus 9.9
414 tooth disease 9.9
415 cholesteatoma of middle ear 9.9
416 hydronephrosis 9.9
417 megacolon 9.9
418 heart disease 9.9
419 oligohydramnios 9.9
420 polyneuropathy 9.9
421 lacrimal duct obstruction 9.9
422 hypothyroidism 9.9
423 ventricular septal defect 9.9
424 neuritis 9.9
425 atrial heart septal defect 9.9
426 cerebral palsy 9.9
427 chondroma 9.9
428 astrocytoma 9.9
429 external ear disease 9.9
430 hypertrichosis 9.9
431 myopathy 9.9
432 paraplegia 9.9
433 peptic ulcer disease 9.9
434 muscular atrophy 9.9
435 cataract 9.9
436 dextrocardia 9.9
437 congenital nystagmus 9.9
438 refractive error 9.9
439 hypertropia 9.9
440 alopecia 9.9
441 baraitser-winter cerebrofrontofacial syndrome 9.9
442 mecp2 disorders 9.9
443 x-linked opitz g/bbb syndrome 9.9
444 cerebrospinal fluid leak 9.9
445 fibromatosis 9.9
446 pectus carinatum 9.9
447 preauricular sinus 9.9
448 pseudo-turner syndrome 9.9
449 rasmussen johnsen thomsen syndrome 9.9
450 cerebral atrophy 9.9
451 febrile seizures 9.9
452 seizure disorder 9.9
453 syncope 9.9
454 tremor 9.9
455 isolated craniosynostosis 9.9
456 nasal encephalocele 9.9
457 low-grade astrocytoma 9.9
458 ciliopathy 9.9
459 rasmussen subacute encephalitis 9.9
460 congenital amyoplasia 9.9
461 lobar holoprosencephaly 9.9
462 landau-kleffner syndrome 9.8 SCN1A MECP2
463 autosomal dominant non-syndromic intellectual disability 9.7 POGZ NSD1 MED13L MECP2 ANKRD11
464 orofacial cleft 9.6 TFAP2A PAX6 FGFR2 EFNB1
465 hemimegalencephaly 9.5 SCN1A PIK3CA
466 pervasive developmental disorder 9.5 SCN1A POGZ PAX6 MECP2
467 lung squamous cell carcinoma 9.3 TFAP2A RET PIK3CA NSD1 FGFR2

Graphical network of the top 20 diseases related to Hypertelorism:



Diseases related to Hypertelorism

Symptoms & Phenotypes for Hypertelorism

Human phenotypes related to Hypertelorism:

31 (showing 1, show less)
# Description HPO Frequency HPO Source Accession
1 hypertelorism 31 HP:0000316

Symptoms via clinical synopsis from OMIM:

56
Eyes:
hypertelorism

Clinical features from OMIM:

145400

MGI Mouse Phenotypes related to Hypertelorism:

45 (showing 16, show less)
# Description MGI Source Accession Score Top Affiliating Genes
1 mortality/aging MP:0010768 10.36 ANKRD11 CCNK COL1A1 EFNB1 FGFR2 MECP2
2 behavior/neurological MP:0005386 10.34 ANKRD11 COL1A1 FGFR2 MECP2 MID1 MYH10
3 embryo MP:0005380 10.34 ANKRD11 COL1A1 EFNB1 FGFR2 MECP2 MID1
4 growth/size/body region MP:0005378 10.32 ANKRD11 COL1A1 EFNB1 FGFR2 MECP2 MID1
5 cellular MP:0005384 10.28 COL1A1 EFNB1 FGFR2 MECP2 MYH10 PAX6
6 cardiovascular system MP:0005385 10.25 COL1A1 FGFR2 MECP2 MYH10 PAX6 PIK3CA
7 craniofacial MP:0005382 10.22 ANKRD11 COL1A1 EFNB1 FGFR2 MECP2 MYH10
8 nervous system MP:0003631 10.18 COL1A1 EFNB1 FGFR2 MECP2 MID1 MYH10
9 digestive/alimentary MP:0005381 10.05 COL1A1 EFNB1 FGFR2 PAX6 RET TFAP2A
10 muscle MP:0005369 10.01 COL1A1 FGFR2 MID1 MYH10 PAX6 PIK3CA
11 hearing/vestibular/ear MP:0005377 10 ANKRD11 COL1A1 EFNB1 FGFR2 MECP2 PAX6
12 normal MP:0002873 9.91 COL1A1 FGFR2 MECP2 MID1 MYH10 PAX6
13 no phenotypic analysis MP:0003012 9.87 COL1A1 EFNB1 FGFR2 MECP2 NSD1 PIK3CA
14 respiratory system MP:0005388 9.76 COL1A1 EFNB1 FGFR2 MECP2 PAX6 RET
15 skeleton MP:0005390 9.65 ANKRD11 COL1A1 EFNB1 FGFR2 MECP2 MYH10
16 vision/eye MP:0005391 9.28 ANKRD11 COL1A1 EFNB1 FGFR2 MECP2 MYH10

Drugs & Therapeutics for Hypertelorism

Drugs for Hypertelorism (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(showing 14, show less)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
tannic acid Approved Phase 1, Phase 2 1401-55-4
2
Benzocaine Approved, Investigational Phase 1, Phase 2 94-09-7, 1994-09-7 2337
3
Simvastatin Approved Phase 2 79902-63-9 54454
4 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 2
5 Lipid Regulating Agents Phase 2
6 Hypolipidemic Agents Phase 2
7 Anticholesteremic Agents Phase 2
8 Antimetabolites Phase 2
9 Anesthetics Phase 2
10 Antioxidants Phase 2
11 Protective Agents Phase 2
12 Gastrointestinal Agents Phase 1, Phase 2
13 Cholic Acids Phase 1, Phase 2
14 Phytosterol

Interventional clinical trials:

(showing 12, show less)
# Name Status NCT ID Phase Drugs
1 The Effects of Dietary Cholesterol in the Smith-Lemli-Opitz Syndrome Unknown status NCT00004347 Phase 2
2 Treatment of the Cholesterol Defect in Smith-Lemli-Opitz Syndrome Completed NCT00272844 Phase 1, Phase 2 crystalline cholesterol oil-based suspension
3 Short-Term Behavioral Effects of Cholesterol Therapy in Smith-Lemli-Opitz Syndrome Completed NCT00114634 Phase 2
4 Investigation of Simvastatin Therapy in Smith-Lemli-Opitz Syndrome Completed NCT00064792 Phase 2 Simvastatin Susp.;OraPlus
5 Cholesterol and Antioxidant Treatment in Patients With Smith-Lemli-Opitz Syndrome (SLOS) Recruiting NCT01773278 Phase 2 Antioxidants;Cholesterol
6 Smith-Lemli-Opitz Syndrome: A Pilot Study of Cholic Acid Supplementation Not yet recruiting NCT03720990 Phase 1, Phase 2 Cholic Acid
7 Carrier Frequency and Incidence of Smith-Lemli-Opitz Syndrome in African Americans Completed NCT00017732
8 The Feasibility of Screening for Smith-Lemli-Opitz Syndrome Completed NCT00070850
9 Identification of Mutations That Lead to Craniometaphyseal Dysplasia in Families and Isolated Cases and Studies of Cellular and Molecular Mechanisms Recruiting NCT01630460
10 Clinical and Basic Investigations Into Smith-Lemli-Opitz Syndrome Recruiting NCT00001721
11 Smith-Lemli-Opitz Syndrome: A Longitudinal Clinical Study of Patients Receiving Cholesterol Supplementation Terminated NCT01356420
12 Smith-Lemli-Opitz Syndrome: A Longitudinal Clinical Study of Patients Receiving Cholesterol Supplementation Withdrawn NCT01413425

Search NIH Clinical Center for Hypertelorism

Genetic Tests for Hypertelorism

Genetic tests related to Hypertelorism:

# Genetic test Affiliating Genes
1 Hypertelorism 29

Anatomical Context for Hypertelorism

MalaCards organs/tissues related to Hypertelorism:

40
Eye, Bone, Heart, Skin, Brain, Pituitary, Kidney

Publications for Hypertelorism

Articles related to Hypertelorism:

(showing 2169, show less)
# Title Authors PMID Year
1
Hypertelorism: interorbital growth, measurements, and pathogenetic considerations. 56 61
8636632 1995
2
Hypertelorism in Several Generations. 61 56
21031712 1927
3
[Physiological euryopia and pathological hypertelorismus ocularis]. 56
13206986 1954
4
Phenotype and growth in Sotos syndrome patient from DR Congo (Central Africa). 61
32406590 2020
5
Coffin-Lowry syndrome in a girl with 46,XX,t(X;11)(p22;p15)dn: Identification of RPS6KA3 disruption by whole genome sequencing. 61
32577269 2020
6
A child with complementary mosaic trisomy 8 and mosaic trisomy 21; clinical description of Warkany-Down syndrome and mechanism of origin. 61
32240827 2020
7
Prenatal diagnosis of Greig Cephalopolysyndactyly Syndrome. When to suspect it. 61
32495660 2020
8
Noonan syndrome with multiple Giant cell lesions, management and treatment with surgery and interferon alpha-2a therapy: Case report. 61
32065515 2020
9
Clinical study and some molecular features of Mexican patients with syndromic craniosynostosis. 61
32510873 2020
10
Treatment of the Patient With Crouzon Syndrome With Orthognathic Surgery. 61
31934979 2020
11
Delineation of musculocontractural Ehlers-Danlos Syndrome caused by dermatan sulfate epimerase deficiency. 61
32130795 2020
12
Thyrotoxic Periodic Paralysis With Features of Andersen-Tawil Syndrome: A Case Report and Literature Review. 61
32432016 2020
13
7q35 Microdeletion and 15q13.3 and Xp22.33 Microduplications in a Patient with Severe Myoclonic Epilepsy, Microcephaly, Dysmorphisms, Severe Psychomotor Delay and Intellectual Disability. 61
32397165 2020
14
Chinese patient with neurofibromatosis-Noonan syndrome caused by novel heterozygous NF1 exons 1-58 deletion: a case report. 61
32357851 2020
15
The Connective Tissue Disorder Associated with Recessive Variants in the SLC39A13 Zinc Transporter Gene (Spondylo-Dysplastic Ehlers-Danlos Syndrome Type 3): Insights from Four Novel Patients and Follow-Up on Two Original Cases. 61
32295219 2020
16
First report of tethered cord syndrome in a patient with Sotos syndrome. 61
32331522 2020
17
A Novel Missense Variant in the ALX4 Gene Underlies Mild to Severe Frontonasal Dysplasia in a Consanguineous Family. 61
32216639 2020
18
Gorlin-like phenotype in a patient with a PTCH2 variant of uncertain significance. 61
31945512 2020
19
Greig Cephalopolysyndactyly Syndrome with Oral Manifestations: A Rare Case Report. 61
32566533 2020
20
A novel SPECC1L mutation causing Teebi hypertelorism syndrome: Expanding phenotypic and genetic spectrum. 61
31953237 2020
21
Novel features of PIK3CA-Related Overgrowth Spectrum: Lesson from an aborted fetus presenting a de novo constitutional PIK3CA mutation. 61
31568861 2020
22
Genetic evaluation including exome sequencing of two patients with Gomez-Lopez-Hernandez syndrome: Case reports and review of the literature. 61
32003537 2020
23
Outcomes of Intracranial Versus Subcranial Approaches to the Frontofacial Skeleton. 61
32439382 2020
24
De Novo Variants in SPOP Cause Two Clinically Distinct Neurodevelopmental Disorders. 61
32109420 2020
25
[A case report of BCL11B mutation induced neurodevelopmental disorder and literature review]. 61
32135595 2020
26
Molecular and clinical studies in 107 Noonan syndrome affected individuals with PTPN11 mutations. 61
32164556 2020
27
Dental and maxillofacial features of Noonan Syndrome: Case series of ten patients. 61
32113883 2020
28
4q27 deletion and 7q36.1 microduplication in a patient with multiple malformations and hearing loss: a case report. 61
32126996 2020
29
Postoperative Complications of Box-Shift Osteotomy for Orbital Hypertelorism. 61
31977694 2020
30
Phenotype and variations associated with the deletion of the 1q44 cytoband and the pathogenic duplication in the 9q32q34.3 cytobands. 61
32152069 2020
31
Biallelic INTS1 Mutations Cause a Rare Neurodevelopmental Disorder in Two Chinese Siblings. 61
31428919 2020
32
Cardiofaciocutaneous Syndrome Phenotype in a Case with de novo KRAS Pathogenic Variant. 61
32021610 2020
33
Ocular Findings in the 16p11.2 Microdeletion Syndrome: A Case Report and Literature Review. 61
32373379 2020
34
Two Abnormal Cell Lines of Trisomy 14 and t(X;14) with Skewed X-Inactivation. 61
32187602 2020
35
Identification of a Pathogenic TGFBR2 Variant in a Patient With Loeys-Dietz Syndrome. 61
32528524 2020
36
Report of trisomy 2q34-qter and monosomy 4q35.2-qter in a child with mild dysmorphic syndrome and karyotype 46,XY,der(4)t(2;4)(q34;q35.2)pat. 61
32467733 2020
37
ADAMTS9 and ADAMTS20 are differentially affected by loss of B3GLCT in mouse model of Peters plus syndrome. 61
31600785 2019
38
Otopalatodigital Syndrome Type I: Novel Characteristics and Prenatal Manifestations in two Siblings. 61
31942422 2019
39
Frontonasal dysplasia: A case report. 61
31914496 2019
40
Apert syndrome: prenatal diagnosis challenge. 61
31822532 2019
41
Hypertelorism. 61
31679589 2019
42
Addressing hypertelorism: Indications and techniques. 61
31557491 2019
43
Case series: Amniotic band sequence with craniofacial abnormalities. 61
31407870 2019
44
Lacrimal drainage anomalies in Tessier cleft 3 with unilateral anophthalmos. 61
31771345 2019
45
Surgical treatment of orbital hypertelorism: Historical evolution and development prospects. 61
31519384 2019
46
Virtual 3D planning of osteotomies for craniosynostoses and complex craniofacial malformations. 61
31568779 2019
47
The relationship between external bony defects and widened lateral interorbital distance in frontoethmoidal encephalomeningocele. 61
31409529 2019
48
Variants in GLI3 Cause Greig Cephalopolysyndactyly Syndrome. 61
31573334 2019
49
Novel de novo interstitial deletion in 2q36.1q36.3 causes syndromic hearing loss and further delineation of the 2q36 deletion syndrome. 61
31403828 2019
50
Ocular manifestations in Gorlin-Goltz syndrome. 61
31533758 2019
51
Four novel mutations in EFNB1 in Indian patients with craniofrontonasal syndrome. 61
31285555 2019
52
A Case of Cleidocranial Dysplasia with a Novel Mutation and Growth Velocity Gain with Growth Hormone Treatment 61
30468148 2019
53
A New Technique Using Modified Dehaan's Method for Median Cleft Lip Closure: A Case Report. 61
31448395 2019
54
Antenatal diagnosis of cardio-facio-cutaneous syndrome: Prenatal characteristics and contribution of fetal facial dysmorphic signs in utero. About a case and review of literature. 61
31336229 2019
55
Controversy on the Age of Hypertelorism Correction. 61
31107381 2019
56
Michelin Tire Baby Syndrome: A Rare Case with Review of Literature. 61
31696012 2019
57
Severe Noonan syndrome phenotype associated with a germline Q71R MRAS variant: a recurrent substitution in RAS homologs in various cancers. 61
31173466 2019
58
Mandibulofacial dysostosis with microcephaly: a syndrome to remember. 61
31413053 2019
59
Autosomal dominant optic atrophy plus due to the novel OPA1 variant c.1463G>C. 61
31152339 2019
60
Treating Craniofacial Dysostoses with Hypertelorism by Monobloc Facial Bipartition Distraction: Surgical and Educational Videos. 61
31348356 2019
61
Discussion: Treating Craniofacial Dysostoses with Hypertelorism by Monobloc Facial Bipartition Distraction: Surgical and Educational Videos. 61
31348357 2019
62
Lacrimal drainage anomalies in Rubinstein-Taybi syndrome: case report and review of literature. 61
30183454 2019
63
Congenital nephrotic syndrome associated with 22q11.2 duplication syndrome in a Chinese family and functional analysis of the intronic NPHS1 c. 3286 + 5G > A mutation. 61
31443662 2019
64
Shprintzen-Goldberg syndrome with plagiocephaly: A case report. 61
31577075 2019
65
Pathogenic Variants in GPC4 Cause Keipert Syndrome. 61
30982611 2019
66
The History of Noonan Syndrome. 61
31115193 2019
67
Importance of cardiovascular examination in patients with multiple lentigines: two cases of LEOPARD syndrome with hypertrophic cardiomyopathy. 61
29717636 2019
68
ERF-related craniosynostosis: The phenotypic and developmental profile of a new craniosynostosis syndrome. 61
30758909 2019
69
Management of median and paramedian craniofacial clefts. 61
30691993 2019
70
Radiography of Chitayat syndrome in an infant male. 61
30728880 2019
71
Multidisciplinary eyelid reconstruction in Barber-Say syndrome: A case report. 61
30455119 2019
72
State-of-the-Art Hypertelorism Management. 61
30851750 2019
73
Rasopathies case report: concurrence of two pathogenic variations de novo in NF1 and KRAS genes in a patient. 61
30953504 2019
74
Autistic symptoms in Greig cephalopolysyndactyly syndrome: a family case report. 61
31010437 2019
75
Novel pathogenic SMAD2 variants in five families with arterial aneurysm and dissection: further delineation of the phenotype. 61
29967133 2019
76
[Liver dysfunction for 8 years with hypertension for 1 week in an 8-year-old girl]. 61
30907355 2019
77
Exposure, entropion, and bilateral corneal ulceration in a newborn as a manifestation of chromosome 22 q11.2 duplication syndrome. 61
30505980 2019
78
Barber Say Syndrome (A New Case Report). 61
30984591 2019
79
A novel mutation in the GATAD2B gene associated with severe intellectual disability. 61
30482549 2019
80
Recurrent Erythema Nodosum in a Child with a SHOC2 Gene Mutation. 61
30962759 2019
81
An enigma of Gorlin-Goltz syndrome: Two cases reported in mother and daughter. 61
30967739 2019
82
Clinical and genetic findings of two cases with Apert syndrome. 61
30657466 2019
83
UBE2A-related X-linked intellectual disability. 61
30179896 2019
84
Novel Melanocortin 2 Receptor Variant in a Chinese Infant With Familial Glucocorticoid Deficiency Type 1, Case Report and Review of Literature. 61
31244773 2019
85
Ocular Manifestations of the NAA10-Related Syndrome. 61
31093388 2019
86
[Clinical and genetic manifestations of immunodeficiency, centromeric instability, and facial anomalies syndrome: a case report and literature review]. 61
30630233 2019
87
Gorlin-Goltz syndrome. 61
30995852 2019
88
Aberrant growth of the anterior cranial base relevant to severe midface hypoplasia of Apert syndrome. 61
30591916 2018
89
Ablepharon and craniosynostosis in a patient with a localized TWIST1 basic domain substitution. 61
30450715 2018
90
Bi-allelic TMEM94 Truncating Variants Are Associated with Neurodevelopmental Delay, Congenital Heart Defects, and Distinct Facial Dysmorphism. 61
30526868 2018
91
Rhombencephalosynapsis: Fused cerebellum, confused geneticists. 61
30580482 2018
92
[Clinical and laboratory characteristics and genetic diagnosis of Kabuki syndrome]. 61
30392209 2018
93
Ultrasonographic prenatal imaging of fetal ocular and orbital abnormalities. 61
29705173 2018
94
Ring chromosome 15 - cytogenetics and mapping arrays: a case report and review of the literature. 61
30442194 2018
95
PPP1R21 homozygous null variants associated with developmental delay, muscle weakness, distinctive facial features, and brain abnormalities. 61
29808498 2018
96
Dental and Maxillofacial Signs in Aarskog Syndrome: A Review of 3 Siblings and the Literature. 61
29689188 2018
97
Internasal: A New Type of Frontoethmoidal Encephalomeningocele. 61
30067526 2018
98
Surgery of complex craniofacial defects: A single-step AM-based methodology. 61
30337077 2018
99
Digital-Facial Translocation in Amniotic Band Sequence: Evidence of the Intrinsic Theory. 61
30106805 2018
100
Normative Data of the Interorbital Distance in Thai Population. 61
30234716 2018
101
De Novo Mutations of CCNK Cause a Syndromic Neurodevelopmental Disorder with Distinctive Facial Dysmorphism. 61
30122539 2018
102
Delayed Diagnosis of Gorlin-Goltz Syndrome: The Importance of the Multidisciplinary Approach. 61
29521748 2018
103
Mabry Syndrome in a Child of South Asian Descent. 61
30173695 2018
104
Hypertelorism Secondary to Mucocele in the Paranasal Sinuses. 61
30015745 2018
105
Child with cerebral malformations and epilepsy. 61
29372643 2018
106
Prenatal diagnosis of Apert syndrome using ultrasound, magnetic resonance imaging, and three-dimensional virtual/physical models: three case series and literature review. 61
29441430 2018
107
Antenatal Diagnosis of Fetal Retinoid Syndrome at 20 Weeks of Gestation: A Case Report. 61
29843537 2018
108
[Analysis of NIPBL gene mutation in a patient with Cornelia de Lange syndrome]. 61
30098256 2018
109
A 13-year-old girl with 18p deletion syndrome presenting Turner syndrome-like clinical features of short stature, short webbed neck, low posterior hair line, puffy eyelids and increased carrying angle of the elbows. 61
30122583 2018
110
Ocular findings in Loeys-Dietz syndrome. 61
29146755 2018
111
Neuroimaging findings in Pallister-Killian syndrome. 61
29260614 2018
112
Goldenhar syndrome with blepharophimosis and limb deformities: a case report. 61
30134872 2018
113
[Clinical and genetic analysis of Verheij syndrome caused by PUF60 de novo mutation in a Chinese boy and literature review]. 61
30078240 2018
114
A study of familial Char syndrome involving the TFAP2B gene with a focus on facial shape characteristics. 61
29683802 2018
115
Nationwide Study of Turner Syndrome in Ukrainian Children: Prevalence, Genetic Variants and Phenotypic Features 61
29537378 2018
116
Use of the Masquerade Flap in Ablepharon-Macrostomia Syndrome: A Case Report. 61
29538102 2018
117
Fatal heart failure caused by severe pulmonary regurgitation, tricuspid regurgitation and late-onset mitral stenosis in an adult patient with Noonan syndrome: a case report. 61
30012103 2018
118
[Clinical phenotypes and a genetic analysis of patients with Sotos syndrome]. 61
29972123 2018
119
Hydroxyapatite implantation for the repair of a congenital nasal anomaly: 10 years follow-up. 61
29992000 2018
120
The distinct optic disk and peripapillary appearance in Donnai-Barrow syndrome. 61
29388841 2018
121
[Clinical and genetic features of ring chromosome 13 syndrome: an analysis of one case]. 61
29972124 2018
122
Altered Neocortical Gene Expression, Brain Overgrowth and Functional Over-Connectivity in Chd8 Haploinsufficient Mice. 61
29668850 2018
123
Identification of a novel homozygous ALX4 mutation in two unrelated patients with frontonasal dysplasia type-2. 61
29681084 2018
124
Novel PTCH1 Gene Mutation in Nevoid Basal Cell Carcinoma Syndrome. 61
29381605 2018
125
Novel pathogenic RECQL4 variants in Chinese patients with Rothmund-Thomson syndrome. 61
29462647 2018
126
Lethal persistent pulmonary hypertension of the newborn in Bohring-Opitz syndrome. 61
29681105 2018
127
A mutation update on the LDS-associated genes TGFB2/3 and SMAD2/3. 61
29392890 2018
128
De novo HDAC8 mutation causes Rett-related disorder with distinctive facial features and multiple congenital anomalies. 61
29519750 2018
129
Forkhead box C1 gene variant causing glaucoma and small vessel angiopathy can mimic multiple sclerosis. 61
29751260 2018
130
Orbital Plates and Screws Causing Globe Fixation: A Rare and Delayed Complication of Craniomaxillofacial Surgery. 61
29547465 2018
131
Lenz majewskihyperostotic dwarfism: A Pakistani patient with atypical features. 61
29885186 2018
132
A child with multiple congenital anomalies due to partial trisomy 7q22.1 → qter resulting from a maternally inherited balanced translocation: a case report and review of literature. 61
29739404 2018
133
SIX2 gene haploinsufficiency leads to a recognizable phenotype with ptosis, frontonasal dysplasia, and conductive hearing loss. 61
29315086 2018
134
Congenital cavitary optic disc anomaly and Axenfeld's anomaly in Wolf-Hirschhorn syndrome: A case report and review of the literature. 61
29199884 2018
135
The presence of diminished white matter and corpus callosal thinning in a case with a SOX9 mutation. 61
28965976 2018
136
Saethre-Chotzen syndrome: Case report and literature review. 61
30152628 2018
137
Okur-Chung neurodevelopmental syndrome: Eight additional cases with implications on phenotype and genotype expansion. 61
29240241 2018
138
Morning glory syndrome with Moyamoya disease: A rare association with role of imaging. 61
30050238 2018
139
The Role of Bipartition Distraction in the Treatment of Apert Syndrome. 61
29481405 2018
140
A Review of Randomized Controlled Trials in Cleft and Craniofacial Surgery. 61
29084117 2018
141
Cleidocranial Dysplasia: A Review of Clinical, Radiological, Genetic Implications and a Guidelines Proposal. 61
29189406 2018
142
Surgical Management of Facial Features of Robinow Syndrome: A Case Report. 61
29610615 2018
143
Inheritance of a Balanced t(12;20)(q24.33;p12.2) and Unbalanced der(13)t(7;13)(p21.3;q33.2) from a Maternally Derived Double Balanced Translocation Carrier. 61
29441220 2018
144
Elsahy-Waters syndrome is caused by biallelic mutations in CDH11. 61
29271567 2018
145
Biallelic mutations in SZT2 cause a discernible clinical entity with epilepsy, developmental delay, macrocephaly and a dysmorphic corpus callosum. 61
28893434 2018
146
Clinical and experimental evidence suggest a link between KIF7 and C5orf42-related ciliopathies through Sonic Hedgehog signaling. 61
29321670 2018
147
Heterozygous mutations affecting the protein kinase domain of CDK13 cause a syndromic form of developmental delay and intellectual disability. 61
29021403 2018
148
New ocular finding in Baraitser-Winter syndrome (BWS). 61
29024830 2018
149
Disruptive Behavior, Global Developmental Delay, and Obesity in a 5-Year-Old Boy with a Chromosome Microduplication. 61
29293472 2018
150
Patient with confirmed LEOPARD syndrome developing multiple melanoma. 61
29445579 2018
151
A Rare Case of Unilateral Morning Glory Disc Anomaly in a Patient with Turner Syndrome: Report and Review of Posterior Segment Associations. 61
30050712 2018
152
Exome sequencing revealed a novel nonsense variant in ALX3 gene underlying frontorhiny. 61
29215096 2018
153
Clinical findings in cases with 9q deletion encompassing the 9q21.11q21.32 region. 61
30102487 2018
154
Primary aesthetic correction of nasal anomaly with costal graft in treating orbital hypertelorism. 61
29174553 2018
155
Phenylketonuria: Our Experience in Nine Years at a Tertiary-level Referral Institute. 61
29899773 2018
156
More Than Meets the Eye: The Effect of Intercanthal Distance on Perception of Beauty and Personality. 61
29068970 2018
157
Congenital basal meningoceles with different outcomes: a case series. 61
29279052 2017
158
Partial monosomy 8p and trisomy 16q in two children with developmental delay detected by array comparative genomic hybridization. 61
29039589 2017
159
Homozygous indel mutation in CDH11 as the probable cause of Elsahy-Waters syndrome. 61
28988429 2017
160
Surgical correction of grade III hypertelorism. 61
29354594 2017
161
Duplication of 19p13.3 in 11-Year-Old Male Patient with Dysmorphic Features and Intellectual Disability: A Review. 61
29142765 2017
162
Two Novel Pathogenic MID1 Variants and Genotype-Phenotype Correlation Reanalysis in X-Linked Opitz G/BBB Syndrome. 61
29456483 2017
163
A homozygous PIGO mutation associated with severe infantile epileptic encephalopathy and corpus callosum hypoplasia, but normal alkaline phosphatase levels. 61
28900819 2017
164
Differences in manifestations of Marfan syndrome, Ehlers-Danlos syndrome, and Loeys-Dietz syndrome. 61
29270370 2017
165
Early fetal presentation of Koolen-de Vries: Case report with literature review. 61
28811189 2017
166
Hypertelorism and Orofacial Clefting Revisited: An Anthropometric Investigation. 61
27505181 2017
167
Tricho-hepato-enteric syndrome with novel SKIV2L gene mutations: A case report. 61
29145277 2017
168
A Novel de novo FZD2 Mutation in a Patient with Autosomal Dominant Omodysplasia. 61
29230162 2017
169
Cranium Bifidum Occultum Associated with Hypertelorism Treated with Posterior Vault Reconstruction and Orbital Box Osteotomies: Case Report and Technical Note. 61
28522383 2017
170
Confirmation that mutations in DDX59 cause an autosomal recessive form of oral-facial-digital syndrome: Further delineation of the DDX59 phenotype in two new families. 61
28711741 2017
171
Hypomorphic Recessive Variants in SUFU Impair the Sonic Hedgehog Pathway and Cause Joubert Syndrome with Cranio-facial and Skeletal Defects. 61
28965847 2017
172
Nasal Duplication Combined with Cleft Lip and Palate: Surgical Correction and Long-Term Follow-Up. 61
29184738 2017
173
Frontal cranioplasty in fronto-metaphyseal dysplasia. 61
28619674 2017
174
Abnormal WNT5A Signaling Causes Mandibular Hypoplasia in Robinow Syndrome. 61
28662348 2017
175
Pfeiffer syndrome: literature review of prenatal sonographic findings and genetic diagnosis. 61
27762162 2017
176
A prenatal diagnosis of mosaic trisomy 5 reveals a postnatal complete uniparental disomy of chromosome 5 with multiple congenital anomalies. 61
28653809 2017
177
Ocular manifestations in the X-linked intellectual disability syndromes. 61
28112979 2017
178
Identification of two novel SH3PXD2B gene mutations in Frank-Ter Haar syndrome by exome sequencing: Case report and review of the literature. 61
28694206 2017
179
Applications of 3D orbital computer-assisted surgery (CAS). 61
28642192 2017
180
Delineating the phenotypic spectrum of Bainbridge-Ropers syndrome: 12 new patients with de novo, heterozygous, loss-of-function mutations in ASXL3 and review of published literature. 61
28100473 2017
181
[Unusual facies with delayed development and multiple malformations in a 14-month-old boy]. 61
28774369 2017
182
Facial Curvature Detects and Explicates Ethnic Differences in Effects of Prenatal Alcohol Exposure. 61
28608920 2017
183
[Loeys-Dietz Syndrome, 3 generations, 4 familial cases]. 61
28737872 2017
184
KBG syndrome: An Australian experience. 61
28449295 2017
185
Pallister-Hall Syndrome. 61
29204208 2017
186
Expanding the phenotype of reciprocal 1q21.1 deletions and duplications: a case series. 61
28724436 2017
187
Characterization of a Large Novel α-Globin Gene Cluster Deletion Causing α0-Thalassemia in a Chinese Family. 61
29161910 2017
188
Baraitser-Winter cerebrofrontofacial syndrome. 61
27625340 2017
189
Variations in Current Procedural Terminology Coding for Craniofacial Surgery: A Need for Review and Change. 61
28665842 2017
190
Molecular genetic characterization of a prenatally detected 1.484-Mb Xq13.3-q21.1 duplication encompassing ATRX and a literature review of syndromic intellectual disability and congenital abnormalities in males with a duplication at Xq13.3-q21.1. 61
28600056 2017
191
Identification of a de novo microdeletion 1q44 in a patient with hypogenesis of the corpus callosum, seizures and microcephaly - A case report. 61
28336463 2017
192
Molecular genetic characterization of a prenatally detected de novo interstitial deletion of chromosome 2q (2q31.1-q32.1) encompassing HOXD13, ZNF385B and ZNF804A associated with syndactyly and increased first-trimester nuchal translucency. 61
28600059 2017
193
Frontonasal dysplasia: oral features, restorative and orthodontic dental treatment in a child. 61
28251593 2017
194
Supporting a Youth with Cerebellar Ataxia into Adolescence. 61
28323747 2017
195
Ocular Morbidity in the Correction of Orbital Hypertelorism and Dystopia: A 15-Year Experience. 61
28350678 2017
196
Loss-of-function mutations in the X-linked biglycan gene cause a severe syndromic form of thoracic aortic aneurysms and dissections. 61
27632686 2017
197
Kaufman oculo-cerebro-facial syndrome in a child with small and absent terminal phalanges and absent nails. 61
28003643 2017
198
Abnormal pregnancy outcome associated with high-dose maternal tranylcypromine therapy: Case report and literature review. 61
28237611 2017
199
Ocular dermoid in Pai Syndrome: A review. 61
28126651 2017
200
A novel mutation in ACTG1 causing Baraitser-Winter syndrome with extremely variable expressivity in three generations. 61
27096712 2017
201
Dental treatment of a patient with Opitz G/BBB syndrome. 61
27642052 2017
202
Novel FREM1 mutations in a patient with MOTA syndrome: Clinical findings, mutation update and review of FREM1-related disorders literature. 61
28111185 2017
203
Exome sequencing revealed a novel splice site variant in the ALX1 gene underlying frontonasal dysplasia. 61
27324866 2017
204
A Novel Kleefstra Syndrome-associated Variant That Affects the Conserved TPLX Motif within the Ankyrin Repeat of EHMT1 Leads to Abnormal Protein Folding. 61
28057753 2017
205
Crouzon syndrome with multiple supernumerary teeth. 61
28091449 2017
206
A limb-girdle myopathy phenotype of RUNX2 mutation in a patient with cleidocranial dysplasia: a case study and literature review. 61
28056872 2017
207
A Novel Missense Mutation of the NSD1 Gene Associated with Overgrowth in Three Generations of an Italian Family: Case Report, Differential Diagnosis, and Review of Mutations of NSD1 Gene in Familial Sotos Syndrome. 61
29164086 2017
208
Mosaic Trisomy 9p in a Patient with Mild Dysmorphic Features and Normal Intelligence. 61
28511170 2017
209
Do you know this syndrome? Leopard syndrome. 61
28225973 2017
210
Genetic and prenatal findings in two Japanese patients with Schinzel-Giedion syndrome. 61
28096980 2017
211
Generalized epilepsy in Baraitser-Winter cerebrofrontofacial syndrome. 61
28413780 2017
212
A Case Report of 9p Deletion Syndrome Associated with Partial Trisomy of 1q42. 61
28878839 2017
213
A Small Supernumerary Marker Derived from the Pericentromeric Region of Chromosome 5: Case Report and Delineation of Partial Trisomy 5p Phenotype. 61
29141250 2017
214
Molecular characterization and evaluation of complex rearrangements in a case of ring chromosome 15. 61
29090019 2017
215
Novel Splicing Mutation in B3GAT3 Associated with Short Stature, GH Deficiency, Hypoglycaemia, Developmental Delay, and Multiple Congenital Anomalies. 61
29318063 2017
216
Familial X/Y Translocation Encompassing ARSE in Two Moroccan Siblings with Sensorineural Deafness. 61
29248929 2017
217
Unicoronal Craniosynostosis and Plagiocephaly Correction with Fronto-orbital Bone Remodeling and Advancement. 61
28713746 2017
218
Omphalocele-Exstrophy-Imperforate Anus-Spinal Defects Complex: Associated Malformations in 12 New Cases. 61
27160889 2017
219
Surgical Management of Peripheral Vascular Manifestations of Loeys-Dietz Syndrome. 61
27521820 2017
220
[Congenital Hypothyroidism: 2 observed cases at the Gabriel Toure University Hospital of Bamako, Mali]. 61
30079685 2017
221
International Registry of Patients Carrying TGFBR1 or TGFBR2 Mutations: Results of the MAC (Montalcino Aortic Consortium). 61
27879313 2016
222
FGFR-associated craniosynostosis syndromes and gastrointestinal defects. 61
27481450 2016
223
CASE-REPORT Low-level trisomy 14 mosaicism in a male newborn with ectrodactyly. 61
27966762 2016
224
Effectiveness of a Novel Augmented Reality-Based Navigation System in Treatment of Orbital Hypertelorism. 61
26545227 2016
225
A rare occurrence of two large de novo duplications on 1q42-q44 and 9q21.12-q21.33. 61
27591971 2016
226
[An attempt to identify 22q11.2 microdeletions in samples of the Hungarian schizophrenia DNA bank by multiplex ligation-based probe amplification (MLPA): literature review, methodology and results]. 61
28259864 2016
227
Tessier Clefts and Hypertelorism. 61
27712820 2016
228
A 16q12.2q21 deletion identified in a patient with developmental delay, epilepsy, short stature, and distinctive features. 61
27230627 2016
229
Expanding the phenotype of Triple X syndrome: A comparison of prenatal versus postnatal diagnosis. 61
27644018 2016
230
Orbitocranial Fibrous Dysplasia: Outcome of Radical Resection and Immediate Reconstruction With Titanium Mesh and Pericranial Flap. 61
28005795 2016
231
Recognizable facial features in patients with alternating hemiplegia of childhood. 61
27312461 2016
232
De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype. 61
27693232 2016
233
Ocular Manifestations of Noonan Syndrome: A Prospective Clinical and Genetic Study of 25 Patients. 61
27521173 2016
234
Cutis tricolor: a literature review and report of five new cases. 61
27942472 2016
235
Wall paintings facies and their possible genetic correlates in the ancient Pompeii: A bio-anthropologic message from the past? 61
27107679 2016
236
INTERMITTENT EXOTROPIA COURSE IN FRONTONASAL DYSPLASIA AND SEVERE ORBITAL HYPERTELORISM: CASE REPORT. 61
29693854 2016
237
First Korean Patients with Craniofrontonasal Syndrome Confirmed by EFNB1 Analysis. 61
27650623 2016
238
Re: Effectiveness of a Novel Augmented Reality-Based Navigation System in Treatment of Orbital Hypertelorism. 61
27220020 2016
239
[Two Surgical Cases of Loeys-Dietz Syndrome in Childhood]. 61
27476563 2016
240
Prenatal diagnosis of partial monosomy 5p (5p15.1→pter) and partial trisomy 7p (7p15.2→pter) associated with cystic hygroma, abnormal skull development, and ventriculomegaly. 61
27590389 2016
241
Barber-Say syndrome and Ablepharon-Macrostomia syndrome: An overview. 61
27196381 2016
242
[Clinical features and genetic analysis of two cases with 16p13.3 microdeletion and 19q13.4 microduplication derived from familial cryptic balanced translocation]. 61
27455004 2016
243
[ORO-DENTO-FACIAL MANIFESTATIONS IN PATIENTS WITH FAMILIAL DYSAUTONOMIA]. 61
28530322 2016
244
Ocular Findings in Children With 22q11.2 Deletion Syndrome. 61
27182748 2016
245
LOEYS-DIETZ SYNDROME: PERIOPERATIVE ANESTHESIA CONSIDERATIONS. 61
27487644 2016
246
Paediatric nasal polyps in cystic fibrosis. 61
27329094 2016
247
PERIOPERATIVE CARE OF AN INFANT WITH GOMEZ-LOPEZ-HERNANDEZ SYNDROME. 61
27487646 2016
248
Development of Strabismus in Children Initially Diagnosed with Pseudostrabismus. 61
27220260 2016
249
Atypical Association of Ethmoidal Encephalocele and Hydrocephalus in an Adult Patient with Autosomal-Dominant Osteopetrosis Type I (ADO-I): A Case Report. 61
26851742 2016
250
Ultrasound and MR imaging findings in prenatal diagnosis of craniosynostosis syndromes. 61
26914936 2016
251
Exploring the genetic basis of 3MC syndrome: Findings in 12 further families. 61
26789649 2016
252
Disease-Phenotype Deconvolution in Genetic Eye Diseases Using Online Mendelian Inheritance in Man. 61
27168365 2016
253
[Loeys-Dietz syndrome (TGFβR2 mutation) in a 4-year-old child with thoracic aortic aneurysm]. 61
27017362 2016
254
A New Case of an Extremely Rare 3p21.31 Interstitial Deletion. 61
27385966 2016
255
[17p13.3 duplication as a cause of psychomotor developmental delay in an infant - a further case of a new syndrome]. 61
27137828 2016
256
Nevoid Basal Cell Carcinoma Syndrome: A Long-Term Study in a Family. 61
26889355 2016
257
Clinical delineation of the PACS1-related syndrome--Report on 19 patients. 61
26842493 2016
258
Total Aortic Replacement for a 9-Year-Old Boy With Loeys-Dietz Syndrome. 61
26897206 2016
259
Surgical Orthodontic Treatment for Open Bite in Noonan Syndrome Patient: A Case Report. 61
25575339 2016
260
Use of targeted next-generation sequencing for molecular diagnosis of craniosynostosis: Identification of a novel de novo mutation of EFNB1. 61
26208246 2016
261
CHST14/D4ST1 deficiency: New form of Ehlers-Danlos syndrome. 61
26646600 2016
262
A new frontonasal dysplasia syndrome associated with deletion of the SIX2 gene. 61
26581443 2016
263
Identification and functional characterization of de novo FOXP1 variants provides novel insights into the etiology of neurodevelopmental disorder. 61
26647308 2016
264
Paraspinal neurofibromas and hypertrophic neuropathy in Noonan syndrome with multiple lentigines. 61
26337637 2016
265
Clinical and neuroradiological features of the 9p deletion syndrome. 61
26597681 2016
266
Genotype-phenotype correlation of congenital anomalies in multiple congenital anomalies hypotonia seizures syndrome (MCAHS1)/PIGN-related epilepsy. 61
26394714 2016
267
Delineation of clinical features in Wiedemann-Steiner syndrome caused by KMT2A mutations. 61
25810209 2016
268
Apert syndrome: A case report and review of the literature. 61
28058401 2016
269
PARTIAL TRISOMY 5p12-q 11.2 RESULTING FROM A MARKER CHROMOSOME: A NEW CASE REPORT WITH ATTENTION DEFICIT HYPERACTIVITY DISORDER. 61
30204959 2016
270
Syndromic odontogenic keratocyst: A case report and review of literature. 61
27011939 2016
271
A Familial 14q32.32q32.33 Duplication/17p13.3 Deletion Syndrome with Facial Anomalies and Moderate Intellectual Disability. 61
27164845 2016
272
[Neuhauser syndrome: the facial dysmorphic phenotype]. 61
26820212 2016
273
A novel de novo microdeletion at 17q11.2 adjacent to NF1 gene associated with developmental delay, short stature, microcephaly and dysmorphic features. 61
27247625 2016
274
Prenatal diagnosis of Binder's syndrome: report of two cases. 61
27132430 2016
275
Kleefstra syndrome in Hungarian patients: additional symptoms besides the classic phenotype. 61
26918030 2016
276
Central nervous system abnormalities and psychomotor retardation in a girl with a 15.4-MB deletion of 14q12→q21.2 and a 550-KB deletion of 18p11.23: microarray delineation of an unbalanced chromosome rearrangement and a literature review. 61
29485807 2016
277
Bilateral cleft lip and palate, hypertelorism with agenesis of corpus callosum. 61
27054869 2016
278
Nevoid Basal Cell Carcinoma Syndrome and the Keratocystic Odontogenic Tumor. 61
26608157 2015
279
Bohring-Opitz syndrome (BOS) with a new ASXL1 pathogenic variant: Review of the most prevalent molecular and phenotypic features of the syndrome. 61
26364555 2015
280
Phenotypical diversity of patients with LEOPARD syndrome carrying the worldwide recurrent p.Tyr279Cys PTPN11 mutation. 61
26377839 2015
281
A Case of Anterior Segment Dysgenesis with Iridolenticular Adhesions in Trisomy 18. 61
27617135 2015
282
[Partial facial duplication (a rare diprosopus): Case report and review of the literature]. 61
26586597 2015
283
Heterozygous mutations in ERF cause syndromic craniosynostosis with multiple suture involvement. 61
26097063 2015
284
A homozygous B3GAT3 mutation causes a severe syndrome with multiple fractures, expanding the phenotype of linkeropathy syndromes. 61
26086840 2015
285
Expanding the SPECC1L mutation phenotypic spectrum to include Teebi hypertelorism syndrome. 61
26111080 2015
286
Clinical, cytogenetic, and molecular findings in a patient with a 46,XX,del(18)(q22)/46,XX,idic(18)(q22) karyotype. 61
26417856 2015
287
Cephalometry in adults and children with neurofibromatosis type 1: Implications for the pathogenesis of sphenoid wing dysplasia and the "NF1 facies". 61
26360873 2015
288
Midline Cleft Lip and Bifid Nose Deformity: Description, Classification, and Treatment. 61
26594965 2015
289
7p22.1 microduplication syndrome: Clinical and molecular characterization of an adult case and review of the literature. 61
26297194 2015
290
Systemic connective tissue features in women with fibromuscular dysplasia. 61
26156071 2015
291
Old gene, new phenotype: mutations in heparan sulfate synthesis enzyme, EXT2 leads to seizure and developmental disorder, no exostoses. 61
26246518 2015
292
Review of Ocular Manifestations of Nevoid Basal Cell Carcinoma Syndrome: What an Ophthalmologist Needs to Know. 61
26692711 2015
293
Fraser Syndrome. 61
26522198 2015
294
LEOPARD Syndrome. 61
26632807 2015
295
Exome sequencing identifies a novel heterozygous TGFB3 mutation in a disorder overlapping with Marfan and Loeys-Dietz syndrome. 61
26184463 2015
296
'Splitting versus lumping': Temple-Baraitser and Zimmermann-Laband Syndromes. 61
26264464 2015
297
A consecutive case series of nevoid basal cell carcinoma syndrome affecting the Hong Kong Chinese. 61
26297396 2015
298
Gorlin-Goltz syndrome: A case series of 5 patients in North Indian population with comparative analysis of literature. 61
26604574 2015
299
A systematic review of the literature of nevoid basal cell carcinoma syndrome affecting East Asians and North Europeans. 61
26297395 2015
300
Exome sequencing identifies a homozygous C5orf42 variant in a Turkish kindred with oral-facial-digital syndrome type VI. 61
25846457 2015
301
Partial trisomy 4q and partial monosomy 9p in a girl with choanal atresia and various dysmorphic findings. 61
25979671 2015
302
B56δ-related protein phosphatase 2A dysfunction identified in patients with intellectual disability. 61
26168268 2015
303
Rare ACTG1 variants in fetal microlissencephaly. 61
26188271 2015
304
Novel GLI3 mutation in a Greek-Cypriot patient with Greig cephalopolysyndactyly syndrome. 61
25714367 2015
305
Multiple Unerupted Permanent Teeth Associated with Noonan Syndrome. 61
26229724 2015
306
48, XXXY/49, XXXXY mosaic: new neuroradiological features in an ultra-rare syndrome. 61
26168786 2015
307
ALG8-CDG: novel patients and review of the literature. 61
26066342 2015
308
In-depth phenotyping of a Donnai-Barrow patient helps clarify proximal tubule dysfunction. 61
25822460 2015
309
[Gastrointestinal obstruction in the mosaic trisomy X]. 61
26353463 2015
310
Isolated Sagittal Synostosis in a Boy with Craniofrontonasal Dysplasia and a Novel EFNB1 Mutation. 61
26180728 2015
311
Clinical and molecular delineation of Tetrasomy 9p syndrome: report of 12 new cases and literature review. 61
25847481 2015
312
Variable expression pattern in Donnai-Barrow syndrome: Report of two novel LRP2 mutations and review of the literature. 61
25682901 2015
313
LEOPARD Syndrome with Patent Ductus Arteriosus and Hypertrophic Cardiomyopathy. 61
26591153 2015
314
Describing Crouzon and Pfeiffer syndrome based on principal component analysis. 61
25792443 2015
315
Lehman syndrome: a new syndrome for pierre robin sequence. 61
23962060 2015
316
Subtelomeric 6p25 deletion/duplication: Report of a patient with new clinical findings and genotype-phenotype correlations. 61
25817395 2015
317
A Case of Multiple Spontaneous Keloid Scars. 61
26351423 2015
318
LEOPARD syndrome without hearing loss or pulmonary stenosis: a report of 2 cases. 61
25544017 2015
319
Adult surgical experience with Loeys-Dietz syndrome. 61
25678502 2015
320
Nasal chondroma presenting as hypertelorism. 61
25730333 2015
321
Haploinsufficiency of the miR-873/miR-876 microRNA cluster is associated with craniofacial abnormalities. 61
25680557 2015
322
Report of a family with craniofrontonasal syndrome. 61
25486017 2015
323
Mutations in the FGFR2 gene in Mexican patients with Apert syndrome. 61
25867380 2015
324
Lack of prolidase causes a bone phenotype both in human and in mouse. 61
25460580 2015
325
Baraitser-Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases. 61
25052316 2015
326
Craniofrontonasal Syndrome: Atrial Septal Defect With a Novel EFNB1 Gene Mutation. 61
24919122 2015
327
The value of three-dimensional printing modelling for surgical correction of orbital hypertelorism. 61
25249178 2015
328
Treatment of orbital hypertelorism using inverted U-shaped osteotomy. 61
25699535 2015
329
Gómez-López-Hernández syndrome in a Japanese patient: a case report. 61
24856766 2015
330
Multiple skin hamartomata: a possible novel clinical presentation of SUFU neoplasia syndrome. 61
25287320 2015
331
Mutations in SPECC1L, encoding sperm antigen with calponin homology and coiled-coil domains 1-like, are found in some cases of autosomal dominant Opitz G/BBB syndrome. 61
25412741 2015
332
Truncating mutations in the last exon of NOTCH3 cause lateral meningocele syndrome. 61
25394726 2015
333
A novel heterozygous MAP2K1 mutation in a patient with Noonan syndrome with multiple lentigines. 61
25423878 2015
334
Tetra-phocomelia: the seal limb deformity - a case report. 61
25859493 2015
335
Clinical and oral findings of a patient with Simpson-Golabi-Behmel syndrome. 61
25245233 2015
336
Oral manifestation in mentally challenged children. 61
25859105 2015
337
A FEMALE PATIENT WITH DUPLICATION OF 7p13-pter ASSOCIATED WITH DEL 20p13pter RESULTING FROM MALSEGREGATED PATERNAL 7;20 BALANCED TRANSLOCATION. 61
26349184 2015
338
A VARIANT CASE OF 6p24 DELETION SYNDROME (OMIM #612582). 61
26349195 2015
339
Intellectual disability secondary to a 16p13 duplication in a 1;16 translocation. Extended phenotype in a four-generation family. 61
25425358 2015
340
Bilateral congenital cholesteatoma of the temporal bone in Crouzon syndrome. 61
25993748 2015
341
CLINICAL REPORT OF A PATIENT WITH DE NOVO TRISOMY 12q23.1q24.33. 61
26852509 2015
342
Novel mutation of RUNX2 gene in a patient with cleidocranial dysplasia. 61
25755819 2015
343
R368X mutation in MID1 among recurrent mutations in patients with X-linked Opitz G/BBB syndrome. 61
25304119 2015
344
A familial case of Coffin-Lowry syndrome caused by RPS6KA3 C.898C>T mutation associated with multiple abnormal brain imaging findings. 61
26043507 2015
345
Phenotypic variability in a Hungarian patient with the 4q21 microdeletion syndrome. 61
25774221 2015
346
In support of using computer-aided design and modeling for periorbital osteotomies. 61
25534060 2015
347
Disorder of Sexual Development and Congenital Heart Defect in 47XYY: Clinical Disorder or Coincidence? 61
26175918 2015
348
Facial Characteristics and Olfactory Dysfunction: Two Endophenotypes Related to Nonsyndromic Cleft Lip and/or Palate. 61
26064961 2015
349
Complex de novo chromosomal rearrangement at 15q11-q13 involving an intrachromosomal triplication in a patient with a severe neuropsychological phenotype: clinical report and review of the literature. 61
25339188 2015
350
A 20 bp Duplication in Exon 2 of the Aristaless-Like Homeobox 4 Gene (ALX4) Is the Candidate Causative Mutation for Tibial Hemimelia Syndrome in Galloway Cattle. 61
26076463 2015
351
A PATIENT WITH PARTIAL CHROMOSOME 12q DUPLICATION AND 10q DELETION. 61
26852510 2015
352
Evidence that homozygous PTPRD gene microdeletion causes trigonocephaly, hearing loss, and intellectual disability. 61
26082802 2015
353
[A complicated case study: Hennekam syndrome]. 61
25616299 2015
354
LEOPARD syndrome: you could be the first one to diagnose! 61
25572376 2015
355
Recombinant chromosome with partial 14 q trisomy due to maternal pericentric inversion. 61
26594242 2015
356
Hypertelorism correction with facial bipartition and box osteotomy: does soft tissue translation correlate with bony movement? 61
25469891 2015
357
Neurosurgical management of anterior meningo-encephaloceles about 60 cases. 61
26448810 2015
358
A novel GLI3c.750delC truncation mutation in a multiplex Greig cephalopolysyndactyly syndrome family with an unusual phenotypic combination in a patient. 61
25606469 2014
359
Ponticulus posticus is a frequent radiographic finding on lateral cephalograms in nevoid basal cell carcinoma syndrome (Gorlin-Goltz syndrome). 61
25503179 2014
360
Molecular screening for 22Q11.2 deletion syndrome in patients with congenital heart disease. 61
24880467 2014
361
[Acanthosis nigricans in children and Crouzon syndrome]. 61
25442473 2014
362
Anterior segment developmental anomalies in a 33-week-old fetus with MIDAS syndrome. 61
25291437 2014
363
3p interstitial deletion including PRICKLE2 in identical twins with autistic features. 61
25193415 2014
364
[Coffin-Lowry syndrome. Its association with congenitally narrow cervical canal and myelomalacia]. 61
25354065 2014
365
An osteosclerotic form of Robinow syndrome. 61
25045061 2014
366
Anesthesia and LEOPARD syndrome: a review of forty-nine anesthetic exposures. 61
24461361 2014
367
LEOPARD syndrome-associated SHP2 mutation confers leanness and protection from diet-induced obesity. 61
25288766 2014
368
Familial co-segregation of Coffin-Lowry syndrome inherited from the mother and autosomal dominant Waardenburg type IV syndrome due to deletion of EDNRB inherited from the father. 61
25118007 2014
369
Whole exome sequencing identifies three novel mutations in ANTXR1 in families with GAPO syndrome. 61
25045128 2014
370
Baraitser and Winter syndrome with growth hormone deficiency. 61
25624931 2014
371
Orbitofrontal monobloc advancement for Crouzon syndrome. 61
24530078 2014
372
A ciliopathy with hydrocephalus, isolated craniosynostosis, hypertelorism, and clefting caused by deletion of Kif3a. 61
24887031 2014
373
Michels syndrome: the first case report from India and review of literature. 61
25370402 2014
374
Hypertelorism. 61
25593412 2014
375
Trisomy 1q41-qter and monosomy 3p26.3-pter in a family with a translocation (1;3): further delineation of the syndromes. 61
25223409 2014
376
Pitt-Hopkins syndrome: Mental retardation, psychomotor and developmental delays with facial dysmorphism. 61
27625870 2014
377
Phenotype profiling of patients with intellectual disability and copy number variations. 61
24815074 2014
378
Hypertelorism and micro-orbit simultaneous correction in a patient with paramedian bilateral facial clefts. 61
25203583 2014
379
Prenatal diagnosis of maternally inherited X-linked Opitz G/BBB syndrome by chromosomal microarray in a fetus with complex congenital heart disease. 61
24863803 2014
380
Mild nasal clefting may be predictive for ALX4 heterozygotes. 61
24764194 2014
381
Comparison of ultrasound and magnetic resonance imaging in the prenatal diagnosis of Apert syndrome: report of a case. 61
24566675 2014
382
Midline craniofacial malformations with a lipomatous cephalocele are associated with insufficient closure of the neural tube in the tuft mouse. 61
24931720 2014
383
Frontofacial surgery in children and adolescents: techniques, indications, outcomes. 61
25210505 2014
384
Phenotypes of craniofrontonasal syndrome in patients with a pathogenic mutation in EFNB1. 61
24281372 2014
385
Multiple nevoid basal cell carcinoma syndrome associated with congenital orbital teratoma, caused by a PTCH1 frameshift mutation. 61
25117323 2014
386
Morning glory syndrome associated with multiple sclerosis. 61
25422739 2014
387
Phylloid hypermelanosis: a cutaneous marker of several different disorders? 61
23278628 2014
388
Complex translocation among chromosomes 2, 3, 9, 15, 18, 20 in a patient with 3p-syndrome. 61
24979567 2014
389
Frontoethmoidal encephalocele: Case report and review on management. 61
25593873 2014
390
Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance. 61
24403048 2014
391
Acute dilatation of the ascending aorta and aortic valve regurgitation in Loeys-Dietz syndrome. 61
24882305 2014
392
Cornelia de Lange syndrome with optic disk pit: Novel association and review of literature. 61
25136230 2014
393
Heminasal agenesis: a reconstructive challenge. 61
24777004 2014
394
Cleidocranial dysplasia: report of six clinical cases. 61
24712510 2014
395
[An adult patient with 49, XXXXY syndrome: further clinical and biological delineation]. 61
24876149 2014
396
Skull defects, alopecia, hypertelorism, and notched alae nasi caused by homozygous ALX4 gene mutation. 61
24668755 2014
397
Wolf-Hirschhorn syndrome (WHS) - literature review on the features of the syndrome. 61
24979523 2014
398
[Gorlin syndrome in the paediatric age]. 61
24677153 2014
399
Rare nasal cleft in a patient with holoprosencephaly due to a mutation in the ZIC2 gene. 61
24677696 2014
400
Squamosal suture craniosynostosis in Muenke syndrome. 61
24448525 2014
401
Simultaneous adenomatoid odontogenic and keratocystic odontogenic tumours in a patient with Gorlin-Goltz syndrome. 61
24588311 2014
402
Medical and dental management of Alagille syndrome: a review. 61
24658020 2014
403
Deletions in 14q24.1q24.3 are associated with congenital heart defects, brachydactyly, and mild intellectual disability. 61
24357125 2014
404
Structural insights into Noonan/LEOPARD syndrome-related mutants of protein-tyrosine phosphatase SHP2 (PTPN11). 61
24628801 2014
405
A 1.37-Mb 12p11.22-p11.21 deletion coincident with a 367-kb 22q11.2 duplication detected by array comparative genomic hybridization in an adolescent girl with autism and difficulty in self-care of menstruation. 61
24767651 2014
406
X-linked deafness-2 (DFNX2) phenotype associated with a paracentric inversion upstream of POU3F4. 61
24096866 2014
407
Potocki-Shaffer deletion encompassing ALX4 in a patient with frontonasal dysplasia phenotype. 61
24376213 2014
408
Hand and fibrillin-1 deposition abnormalities in Loeys-Dietz syndrome--expanding the clinical spectrum. 61
24194458 2014
409
Haploinsufficiency of BMP4 gene may be the underlying cause of Frías syndrome. 61
24311462 2014
410
TMCO1 deficiency causes autosomal recessive cerebrofaciothoracic dysplasia. 61
24194475 2014
411
Reduced Euchromatin histone methyltransferase 1 causes developmental delay, hypotonia, and cranial abnormalities associated with increased bone gene expression in Kleefstra syndrome mice. 61
24362066 2014
412
Development of patients with 47,XX,+13/45,X mosaics: case report and review of the literature. 61
23666113 2014
413
Two trisomy 22 live births in one hospital in 15 months: is it as rare as we thought? 61
24093507 2014
414
[Phenotypic and genetic analysis of a child featuring multiple malformations due to copy number variation on chromosome 5]. 61
24510564 2014
415
[Nevoid basal cell carcinoma syndrome with corpus callosum agenesis, PTCH1 mutation and absence of basal cell carcinoma]. 61
25188659 2014
416
Loeys-Dietz syndrome. 61
24443023 2014
417
Absence of cardiovascular manifestations in a haploinsufficient Tgfbr1 mouse model. 61
24587008 2014
418
Craniodentofacial Manifestations in a Rare Syndrome: Orofaciodigital Type IV (Mohr-Majewski Syndrome). 61
25587461 2014
419
Phosphoproteomics-mediated identification of Fer kinase as a target of mutant Shp2 in Noonan and LEOPARD syndrome. 61
25184253 2014
420
Apert's Syndrome. 61
25206244 2014
421
De novo 1Mb interstitial deletion of 8p22 in a patient with slight mental retardation and speech delay. 61
24735523 2014
422
The acrocallosal syndrome in a neonate with further widening of phenotypic expression. 61
24949054 2014
423
Interstitial 14q24.3 to q31.3 deletion in a 6-year-old boy with a non-specific dysmorphic phenotype. 61
25426167 2014
424
Basal encephalocele in an adult patient presenting with minor anomalies: a case report. 61
24468320 2014
425
A patient with duplication (7)(p15.3p22.3) and deletion (7)(p22.3pter) characterized by array-CGH. 61
25804019 2014
426
Short stature, digit anomalies and dysmorphic facial features are associated with the duplication of miR-17 ~ 92 cluster. 61
24739087 2014
427
Cerebro-fronto-facial syndrome type 3 with polymicrogyria: a clinical presentation of Baraitser-Winter syndrome. 61
24211661 2014
428
Holoprosencephaly spectrum among Egyptian patients: clinical and cytogenetic study. 61
25804014 2014
429
Microdeletions of 3p21.31 characterized by developmental delay, distinctive features, elevated serum creatine kinase levels, and white matter involvement. 61
24039031 2013
430
Frameshift mutation in the PTCH2 gene can cause nevoid basal cell carcinoma syndrome. 61
23479190 2013
431
Diagnostic imaging of fetal and pediatric orbital abnormalities. 61
24261386 2013
432
Double Aneuploidy 48,XXY,+21 Associated with a Congenital Heart Defect in a Neonate. 61
24778570 2013
433
Prenatal ultrasound findings observed in the Wolf-Hirschhorn syndrome: data from the registry of congenital malformations in Auvergne. 61
24343879 2013
434
Dementia from the ABCD1 mutation c.1415-1416delAG in a female carrier. 61
23962690 2013
435
Late reconstruction of orbital and naso-orbital deformities. 61
24021624 2013
436
MAPK activation in mature cataract associated with Noonan syndrome. 61
24219368 2013
437
Involvement of EphA2-mediated tyrosine phosphorylation of Shp2 in Shp2-regulated activation of extracellular signal-regulated kinase. 61
23318428 2013
438
Crossed polydactyly and Greig cephalopolysyndactyly syndrome. 61
24222286 2013
439
47,XYY syndrome: clinical phenotype and timing of ascertainment. 61
23810129 2013
440
Expanding the spectrum of microdeletion 4q21 syndrome: a partial phenotype with incomplete deletion of the minimal critical region and a new association with cleft palate and Pierre Robin sequence. 61
23913759 2013
441
De novo unbalanced translocation resulting in monosomy for distal 5p (5p14.1 → pter) and 14q (14q32.31 → qter) associated with fetal nuchal edema, microcephaly, intrauterine growth restriction, and single umbilical artery: prenatal diagnosis and molecular cytogenetic characterization. 61
24075381 2013
442
Severe hypokalemic paralysis as a manifestation of a mitochondrial disorder. 61
23985882 2013
443
Novel no-stop FLNA mutation causes multi-organ involvement in males. 61
23873601 2013
444
Duplication of AKT3 as a cause of macrocephaly in duplication 1q43q44. 61
23794269 2013
445
Complex rearrangement of the exon 6 genomic region among Opitz G/BBB Syndrome MID1 alterations. 61
23791568 2013
446
Two Indian families with Greig cephalopolysyndactyly with non-syndromic phenotype. 61
23334564 2013
447
Loeys-Dietz syndrome with bilateral radial head dislocations: a case report. 61
24014798 2013
448
Interfrontal encephalocele: a rare feature of forehead in hydrocephalic myelomeningocele patients. Clinical feature, probable mechanisms, and management. 61
23864232 2013
449
Clinical delineation of a patient with trisomy 12q23q24. 61
23851164 2013
450
Hereditary ectodermal dysplasia: A retrospective study. 61
24082749 2013
451
Report of interstitial 22q13.1q13.2 microduplication in two siblings with distinctive dysmorphic features, heart defect and mental retardation. 61
23707653 2013
452
Frontonasal and fibrous dysplasia in a patient with unilateral cleft lip and palate. 61
23851889 2013
453
Craniofrontonasal dysplasia: variability of the frontonasal suture and implications for treatment. 61
23851793 2013
454
Clinical manifestations of Xq28 functional disomy involving MECP2 in one female and two male patients. 61
23704079 2013
455
Rapid detection of de novo P253R mutation in FGFR2 using uncultured amniocytes in a pregnancy affected by polyhydramnios, Blake's pouch cyst, and Apert syndrome. 61
23915865 2013
456
Ring chromosome 9 in a girl with developmental delay and dysmorphic features: case report and review of the literature. 61
23633410 2013
457
Prenatal diagnosis of an autosomal translocation with regular trisomy 21. 61
23301917 2013
458
6p subtelomere deletion with congenital glaucoma, severe mental retardation, and growth impairment. 61
23782370 2013
459
High Le Fort I and bilateral split sagittal osteotomy in Crouzon syndrome. 61
23714981 2013
460
6p25 interstitial deletion in two dizygotic twins with gyral pattern anomaly and speech and language disorder. 61
23069351 2013
461
Exon 2 duplication of the MID1 gene in a patient with a mild phenotype of Opitz G/BBB syndrome. 61
23354372 2013
462
Confirmation of the macroblepharon, ectropion, hypertelorism, and macrostomia syndrome. 61
23448909 2013
463
Cellular interference in craniofrontonasal syndrome: males mosaic for mutations in the X-linked EFNB1 gene are more severely affected than true hemizygotes. 61
23335590 2013
464
Acrodysostosis associated with hypercalcemia. 61
23933701 2013
465
GAPO syndrome: four new patients with congenital glaucoma and myelinated retinal nerve fiber layer. 61
23494824 2013
466
A rare cause of dyspnoea: the LEOPARD syndrome. 61
23905457 2013
467
A de novo 17q21.2 duplication in a boy with developmental delay and dysmorphic features. 61
23337768 2013
468
Varadi Papp syndrome, an unusual variant of oral-facial-digital syndrome: Report of a rare case. 61
23956587 2013
469
Clinical report: Two patients with atelosteogenesis type I caused by missense mutations affecting the same FLNB residue. 61
23401428 2013
470
Severe osteopathia striata with cranial sclerosis in a female case with whole WTX gene deletion. 61
23401208 2013
471
Conservative management of severe open bite and feeding difficulties in patient with noonan syndrome. 61
22849635 2013
472
A novel microdeletion syndrome at 9q21.13 characterised by mental retardation, speech delay, epilepsy and characteristic facial features. 61
23279911 2013
473
[Hennekam syndrome: a case report and review of literature]. 61
23856108 2013
474
Neuroblastoma in a pediatric patient with a microduplication of 2p involving the MYCN locus. 61
23401364 2013
475
Speech characteristics in a Ugandan child with a rare paramedian craniofacial cleft: a case report. 61
23277303 2013
476
Jacobsen syndrome without thrombocytopenia: a case report and review of the literature. 61
24192682 2013
477
A boy with partial trisomy of chromosome 3q24-q28 from paternal balanced insertion and multiple congenital anomalies. 61
23322595 2013
478
Nevoid basal cell carcinoma syndrome: a 40-year study in the South African population. 61
22742575 2013
479
The case of 17-year-old male with LEOPARD syndrome. 61
30533116 2013
480
Correcting the typical Apert face: combining bipartition with monobloc distraction. 61
23358017 2013
481
Orthodontic treatment in combination with Le Fort II bone distraction in patient with Apert syndrome. 61
23614948 2013
482
Hydrocephalus, agenesis of the corpus callosum, and cleft lip/palate represent frequent associations in fetuses with Peters' plus syndrome and B3GALTL mutations. Fetal PPS phenotypes, expanded by Dandy Walker cyst and encephalocele. 61
23161355 2013
483
Mosaic trisomy 18 in a five-month-old infant. 61
23781370 2013
484
Expanding the BP1-BP2 15q11.2 Microdeletion Phenotype: Tracheoesophageal Fistula and Congenital Cataracts. 61
23864968 2013
485
A Japanese child with geleophysic dysplasia caused by a novel mutation of FBN1. 61
23124041 2013
486
Clinical and radiological features in young individuals with nevoid basal cell carcinoma syndrome. 61
22918513 2013
487
Crouzon's Syndrome: A Case Report. 61
25206185 2013
488
Live-born trisomy 22: patient report and review. 61
23599696 2013
489
Bilateral radial agenesis with absent thumbs, complex heart defect, short stature, and facial dysmorphism in a patient with pure distal microduplication of 5q35.2-5q35.3. 61
23342975 2013
490
Defective neural crest migration revealed by a Zebrafish model of Alx1-related frontonasal dysplasia. 61
23059813 2013
491
Prenatal diagnosis of frontonasal dysplasia with anterior encephalocele. 61
24592072 2013
492
A novel mutation in a mother and a son with Aarskog-Scott syndrome. 61
23443263 2013
493
[A review of the oro-dento-facial characteristics of hereditary sensory and autonomic neuropathy type III (familial dysautonomia)]. 61
23697298 2013
494
Ring chromosome 15: expanding the phenotype. 61
24551985 2013
495
Fraccaro syndrome: report of two Iranian cases: an infant and an adult in a family. 61
24442548 2013
496
Syndromic diarrhea/Tricho-hepato-enteric syndrome. 61
23302111 2013
497
A familial case with interstitial 2q36 deletion: variable phenotypic expression in full and mosaic state. 61
22820457 2012
498
Reduced bone morphogenetic protein receptor type 1A signaling in neural-crest-derived cells causes facial dysmorphism. 61
22773757 2012
499
Expanded mutational spectrum of the GLI3 gene substantiates genotype-phenotype correlations. 61
22903559 2012
500
A de novo 4.4-Mb microdeletion in 2p24.3 → p24.2 in a girl with bilateral hearing impairment, microcephaly, digit abnormalities and Feingold syndrome. 61
22842076 2012
501
A new partial trisomy 12p with artery catheter vagus, congenital cataracts, external auditory canal, and no turbinate. 61
22959136 2012
502
Hypokalemic periodic paralysis, facial dysmorphism and ventricular arrhythmia (clinical triad of Andersen-Tawil syndrome). 61
23767205 2012
503
Frank-ter Haar syndrome associated with sagittal craniosynostosis and raised intracranial pressure. 61
23140272 2012
504
Novel KIF7 mutations extend the phenotypic spectrum of acrocallosal syndrome. 61
23125460 2012
505
[Presentation of two cases of Crouzon syndrome: allelic cranio-stenotic conditions of FGFR genes]. 61
22633821 2012
506
LEOPARD Syndrome: Clinical Features and Gene Mutations. 61
23239957 2012
507
Ocular findings in children with orbital hypertelorism. 61
23018735 2012
508
Cryptic del/dup aberration of 60.6 Mb at 5q15-5q23.3 predicting adult-onset leukodystrophy. 61
22776853 2012
509
Early manifestations in a cohort of children prenatally diagnosed with 47,XYY. Role of multidisciplinary counseling for parental guidance and prevention of aggressive behavior. 61
23034220 2012
510
MOTA Syndrome: Molecular Genetic Confirmation of the Diagnosis in a Newborn with Previously Unreported Clinical Features. 61
23112756 2012
511
Characterization of a distinct lethal arteriopathy syndrome in twenty-two infants associated with an identical, novel mutation in FBLN4 gene, confirms fibulin-4 as a critical determinant of human vascular elastogenesis. 61
22943132 2012
512
Pure partial monosomy 3p (3p25.3 → pter): prenatal diagnosis and array comparative genomic hybridization characterization. 61
23040932 2012
513
Frontal congenital lipoma. 61
21906151 2012
514
A case of orbital hypertelorism with recovery of binocular vision after surgical treatment. 61
22381454 2012
515
Modified facial bipartition. 61
23483335 2012
516
Hypertelorism, radial ray defects, dextrocardia, hypoplastic ribs and renal anomaly: report of a second case and confirmation of the phenotype. 61
22610273 2012
517
A novel de novo deletion of chromosome 7 [46,XX,del(7)(p14.2 p15.1)] in a child with feeding problems. 61
22565194 2012
518
High frequency of germline SUFU mutations in children with desmoplastic/nodular medulloblastoma younger than 3 years of age. 61
22508808 2012
519
A large duplication involving the IHH locus mimics acrocallosal syndrome. 61
22234151 2012
520
[Bannayan-Riley-Ruvalcaba syndrome and juvenile polyposis in a two-year-old girl]. 61
22673385 2012
521
Triple x syndrome with short stature: case report and literature review. 61
23056899 2012
522
The face in congenital melanocytic nevus syndrome. 61
22438093 2012
523
Loeys-Dietz syndrome presenting as respiratory distress due to pulmonary artery dilation. 61
22488992 2012
524
Atypical Crouzon syndrome with a novel Cys62Arg mutation in FGFR2 presenting with sagittal synostosis. 61
22117175 2012
525
Clinical and molecular characterization of a second case of 7p22.1 microduplication. 61
22495914 2012
526
2q23.1 microdeletion of the MBD5 gene in a female with seizures, developmental delay and distinct dysmorphic features. 61
22659271 2012
527
Orthodontic treatment of a patient with oral-facial-digital syndrome. 61
22449591 2012
528
Annuloaortic ectasia in a 16 year-old boy with Loeys-Dietz syndrome. 61
22325833 2012
529
LEOPARD Syndrome Caused by Tyr279Cys Mutation in the PTPN11 Gene. 61
22822385 2012
530
A MID1 gene mutation in a patient with Opitz G/BBB syndrome that altered the 3D structure of SPRY domain. 61
22407675 2012
531
Mandibular distraction in the setting of chromosome 4q deletion. 61
22154942 2012
532
Microdeletion del(22)(q12.2) encompassing the facial development-associated gene, MN1 (meningioma 1) in a child with Pierre-Robin sequence (including cleft palate) and neurofibromatosis 2 (NF2): a case report and review of the literature. 61
22436304 2012
533
Arterial tortuosity and aneurysm in a case of Loeys-Dietz syndrome type IB with a mutation p.R537P in the TGFBR2 gene. 61
22734312 2012
534
A case report of 22q11 deletion syndrome confirmed by array-CGH method. 61
23267387 2012
535
Joubert syndrome presenting as unilateral dysplastic kidney, hypotonia, and respiratory problem. 61
22382228 2012
536
Rapid aneuploidy diagnosis of partial trisomy 7q (7q34→qter) and partial monosomy 10q (10q26.12→qter) by array comparative genomic hybridization using uncultured amniocytes. 61
22482977 2012
537
New classification scheme of proboscis lateralis based on a review of 50 cases. 61
21219222 2012
538
Discussion: Hypertelorism correction: what happens with growth? Evaluation of a series of 95 surgical cases. 61
22373977 2012
539
Hypertelorism correction: what happens with growth? Evaluation of a series of 95 surgical cases. 61
22090248 2012
540
Hypertelorism in Charcot-Marie-Tooth disease 1A from the common PMP22 duplication: A Case Report. 61
22496945 2012
541
Clinical and molecular cytogenetic studies in ring chromosome 5: report of a child with congenital abnormalities. 61
22193390 2012
542
Abnormal facial appearance, body asymmetry, limb deformities, and internal malformations. 61
22140078 2012
543
Genotype-phenotype correlation of a 5q22.3 deletion associated with craniofacial and limb defects. 61
22178765 2012
544
Clinical features and genetic analysis of Korean patients with Loeys-Dietz syndrome. 61
22113417 2012
545
Transforming growth factor β signaling perturbation in the Loeys-Dietz syndrome. 61
22335518 2012
546
Duplication of the pituitary gland associated with multiple blastogenesis defects: Duplication of the pituitary gland (DPG)-plus syndrome. Case report and review of literature. 61
22439114 2012
547
A case of Sotos syndrome treated with distraction osteogenesis in maxilla and mandible. 61
22790336 2012
548
Hypertension and Biliary Ductopenia in a Patient with Duplication of Exon 6 of the JAG1 Gene. 61
23641167 2012
549
Apert syndrome: A case report. 61
22229016 2012
550
2q23.1 microdeletion of the MBD5 gene in a female with seizures, developmental delay and distinct dysmorphic features. 61
22085995 2012
551
Chromosome 15q24 microdeletion syndrome. 61
22216833 2012
552
Phenotypic spectrum of the SMAD3-related aneurysms-osteoarthritis syndrome. 61
22167769 2012
553
Mild nasal malformations and parietal foramina caused by homozygous ALX4 mutations. 61
22140057 2012
554
Fine-grained facial phenotype-genotype analysis in Wolf-Hirschhorn syndrome. 61
21792232 2012
555
A review of the oro-dento-facial characteristics of hereditary sensory and autonomic neuropathy type III (familial dysautonomia). 61
22229594 2012
556
Unique Combination of 22q11 and 14qter Microdeletion Syndromes Detected Using Oligonucleotide Array-CGH. 61
22511897 2012
557
Partial trisomy 1q (1q42.13-->qter) and partial monosomy 6q (6q27-->qter) in a girl with single median maxillary central incisor, corpus callosum dysgenesis and developmental delay. 61
23431743 2012
558
Rubinstein-taybi syndrome: a case report. 61
22991675 2012
559
Partial monosomy 3p (3p26.2 --> pter) and partial trisomy 5q (5q34 --> qter) in a girl with coarctation of the aorta, congenital heart defects, short stature, microcephaly and developmental delay. 61
23072190 2012
560
Sotos syndrome. 61
22169837 2011
561
Persistent pupillary membrane, strabismus, and optic nerve hypoplasia in Donnai-Barrow syndrome. 61
22153411 2011
562
Axenfeld-Rieger anomaly and Axenfeld-Rieger syndrome: clinical, molecular-cytogenetic, and DNA array analyses of three patients with chromosomal defects at 6p25. 61
22009788 2011
563
Morphological integration of soft-tissue facial morphology in Down Syndrome and siblings. 61
21996933 2011
564
Double aneuploidy with Edwards-Klinefelter syndromes (48,XXY,+18) of maternal origin: prenatal diagnosis and molecular cytogenetic characterization in a fetus with arthrogryposis of the left wrist and aplasia of the left thumb. 61
22212321 2011
565
Auditory findings and electrophysiologics in individuals with G/BBB syndrome. 61
22183284 2011
566
Maternally inherited partial monosomy 9p (pter → p24.1) and partial trisomy 20p (pter → p12.1) characterized by microarray comparative genomic hybridization. 61
21948691 2011
567
Cutis tricolor parvimaculata in two patients with ring chromosome 15 syndrome. 61
21995437 2011
568
Orbital manifestations of Noonan syndrome. 61
21464791 2011
569
Anterior encephalocele - AIIMS experience a series of 133 patients. 61
22069427 2011
570
Inferior encephalocele: transpalatal repair using paired costal bone grafts with a 14-year follow-up. 61
22008362 2011
571
[Craniofrontonasal syndrome: genetic aspects and description of a clinical case]. 61
21946454 2011
572
Long-term results after 40 years experience with treatment of rare facial clefts: Part 2--Symmetrical median clefts. 61
21616735 2011
573
Macrostomia, thin upper vermilion border, long philtrum, broad halluces, and intellectual disability in two sibs. 61
21910233 2011
574
Clinical and molecular characterization of chromosome 7p22.1 microduplication detected by array CGH. 61
21998864 2011
575
Hennekam lymphangiectasia syndrome. 61
22022089 2011
576
Enabling an unimpeded surgical approach to the skull base in patients with cranial hyperostosis, exemplarily demonstrated for craniometaphyseal dysplasia. 61
21495823 2011
577
Syndromic craniosynostosis in a modern-age skeleton from Siena, Italy. 61
21959423 2011
578
[A new prenatal diagnosis case of frontonasal dysplasia]. 61
21388753 2011
579
Chromosome 1p32-p31 deletion syndrome: prenatal diagnosis by array comparative genomic hybridization using uncultured amniocytes and association with NFIA haploinsufficiency, ventriculomegaly, corpus callosum hypogenesis, abnormal external genitalia, and intrauterine growth restriction. 61
22030051 2011
580
A de novo balanced translocation t(7;12)(p21.2;p12.3) in a patient with Saethre-Chotzen-like phenotype downregulates TWIST and an osteoclastic protein-tyrosine phosphatase, PTP-oc. 61
21708297 2011
581
Basal cell nevus syndrome showing several histologic types of Basal cell carcinoma. 61
22028568 2011
582
Genotype-phenotype correlation in 13q13.3-q21.3 deletion. 61
21741501 2011
583
Valve-sparing aortic root replacement in Loeys-Dietz syndrome. 61
21801912 2011
584
Cranio-lenticulo-sutural dysplasia associated with defects in collagen secretion. 61
21039434 2011
585
Duplication of the EFNB1 gene in familial hypertelorism: imbalance in ephrin-B1 expression and abnormal phenotypes in humans and mice. 61
21542058 2011
586
3D visualization and simulation in surgical planning system of orbital hypertelorism. 61
20703527 2011
587
Congenital aplasia of the optic chiasm and esophageal atresia: a case report. 61
21806818 2011
588
Difficulties of delayed treatment of craniosynostosis in a patient with Crouzon, increased intracranial pressure, and papilledema. 61
21772166 2011
589
Methotrexate and misoprostol teratogenicity: further expansion of the clinical manifestations. 61
21671374 2011
590
[Progressive hypertelorism secondary to craniofacial plasmocytoma]. 61
20394910 2011
591
A LEOPARD mimicking ST-elevation myocardial infarction. 61
21529747 2011
592
Focal segmental glomerulosclerosis and partial deletion of chromosome 6p: a case report. 61
21722607 2011
593
Restrictive dermopathy in a Turkish newborn. 61
21121943 2011
594
The Association of minor congenital anomalies and childhood cancer. 61
21360657 2011
595
A 10.46 Mb 12p11.1-12.1 interstitial deletion coincident with a 0.19 Mb NRXN1 deletion detected by array CGH in a girl with scoliosis and autism. 61
21626680 2011
596
Toriello-Carey syndrome with a 6Mb interstitial deletion at 22q12 detected by array CGH. 61
21567913 2011
597
A sporadic case of Loeys-Dietz syndrome type I with two novel mutations of the TGFBR2 gene. 61
21949523 2011
598
Extending the phenotype of lethal skeletal dysplasia type al Gazali. 61
21567921 2011
599
Prenatal diagnosis and molecular cytogenetic characterization of mosaicism for a small supernumerary marker chromosome derived from ring chromosome 4. 61
21791306 2011
600
HPPD: A newly recognized autosomal dominant disorder involving hypertelorism, preauricular sinus, punctal pits, and deafness mapping to chromosome 14q31. 61
21480481 2011
601
Hypospadias associated with hypertelorism, the mildest phenotype of Opitz syndrome. 61
21326312 2011
602
Branchiooculofacial Syndrome 61
21634087 2011
603
21 Mb deletion in chromosome band 13q22.2q32.1 associated with mild/moderate psychomotor retardation, growth hormone insufficiency, short neck, micrognathia, hypotonia, dysplastic ears and other dysmorphic features. 61
21354346 2011
604
A case with oto-spondylo-mega-epiphyseal-dysplasia (OSMED): the clinical recognition and differential diagnosis. 61
21980822 2011
605
Trisomy 1q42-qter associated with monosomy 6q27-qter: a case report. 61
20954143 2011
606
Early recurrent left atrial myxoma in a teenager with de novo mutation of Carney complex. 61
22090725 2011
607
Acrocallosal syndrome in a young hypertensive male. 61
22696705 2011
608
Thanatophoric dysplasia: a rare entity. 61
22043415 2011
609
LEOPARD Syndrome with PTPN11 Gene Mutation Showing Six Cardinal Symptoms of LEOPARD. 61
21747628 2011
610
An 8.9 year old girl with autism and Gorlin syndrome. 61
21190878 2011
611
Evidence for autosomal dominant inheritance of ablepharon-macrostomia syndrome. 61
21595001 2011
612
Congenital cardiac defects: a possible association of aminopterin syndrome and in utero methotrexate exposure? 61
21327892 2011
613
[7p14.1 microdeletion and Greig cephalopolysyndactyly syndrome]. 61
21296629 2011
614
Ocular hypertelorism in an orthodontic patient. 61
21457866 2011
615
Frank-Ter Haar Syndrome. 61
21453629 2011
616
ICF syndrome in Saudi Arabia: immunological, cytogenetic and molecular analysis. 61
21120685 2011
617
Microduplication of 4p16.3 due to an unbalanced translocation resulting in a mild phenotype. 61
21412978 2011
618
Toriello Carey syndrome: genetic, clinical, and oral considerations: a case report. 61
21371068 2011
619
The difficult nosology of blepharophimosis-mental retardation syndromes: report on two siblings. 61
21567902 2011
620
Ophthalmic considerations in cleft lip and palate patients. 61
22379315 2011
621
Crane-Heise syndrome: two further case reports. 61
21094705 2011
622
Terminal 4q deletion and 8q duplication in a patient with CHARGE-like features. 61
21094707 2011
623
Trabecular and psammomatoid juvenile ossifying fibroma of the skull base mimicking psammomatoid meningioma. 61
20953744 2011
624
Manifested strabismus in a case of Apert syndrome. 61
21354088 2011
625
A de novo deletion of 20q11.2-q12 in a boy presenting with abnormal hands and feet, retinal dysplasia, and intractable feeding difficulty. 61
21271663 2011
626
Diverse clinical and genetic aspects of craniofrontonasal syndrome. 61
21215906 2011
627
Cochlear implantation in Donnai-Barrow syndrome. 61
21756462 2011
628
p.R672C mutation of MYH3 gene in an Egyptian infant presented with Freeman-Sheldon syndrome. 61
20924721 2011
629
Coronal synostosis syndrome (Muenke syndrome): the value of genetic testing versus clinical diagnosis. 61
21233754 2011
630
Multiple pterygium syndrome: mimicking the findings of Turner syndrome. 61
22308873 2011
631
An uncommon association between skin lesions and LEOPARD syndrome affected an old patient. Case report. 61
21657161 2011
632
Prenatal diagnosis of a case of partial monosomy/monosomy 13 mosaicism: 46,XX,r(13)(p11q33)/45,XX,-13 suspected by nuchal fold translucency increasing. 61
23047142 2011
633
Treatment of anterior encephaloceles over 24 years in Kosova. 61
21585191 2011
634
Refinement of the correction of orbital hypertelorism. 61
21233750 2011
635
Congenital hypothyroidism in association with chromosome 3p25.3-pter deletion. 61
22145477 2011
636
UBE2A deficiency syndrome: Mild to severe intellectual disability accompanied by seizures, absent speech, urogenital, and skin anomalies in male patients. 61
21108393 2010
637
[Coarctation of the aorta with aortic arch hypoplasia in newborn with partial trisomy 11q associated to 4q interstitial deletion]. 61
21042272 2010
638
MASP1 mutations in patients with facial, umbilical, coccygeal, and auditory findings of Carnevale, Malpuech, OSA, and Michels syndromes. 61
21035106 2010
639
Elsahy-Waters syndrome: Evidence for autosomal recessive inheritance. 61
20949527 2010
640
Duplication of the TGFBR1 gene causes features of Loeys-Dietz syndrome. 61
20813212 2010
641
Unbalanced 3;22 translocation with 22q11 and 3p deletion syndrome. 61
20949503 2010
642
[Holt-Oram syndrome associated with facial anomalies. A case report]. 61
21184723 2010
643
Median cleft of the upper lip: a rare case. 61
20500055 2010
644
Tissue-limited mosaicism for monosomy 13. 61
20814946 2010
645
Familial Crouzon syndrome. 61
22114439 2010
646
Nevoid basal cell carcinoma syndrome: a 17-year study of 19 cases in Iranian population (1991-2008). 61
20456618 2010
647
Apert syndrome. 61
21273726 2010
648
A MID1 mutation associated with reduced penetrance of X-linked Opitz G/BBB syndrome. 61
20671548 2010
649
A novel EFNB1 mutation (c.712delG) in a family with craniofrontonasal syndrome and diaphragmatic hernia. 61
20734337 2010
650
Partial trisomy 9p22 to 9p24.2 in combination with partial monosomy 9pter in a Syrian girl. 61
20920324 2010
651
Ocular manifestations of Apert and Crouzon syndromes: qualitative and quantitative findings. 61
20856021 2010
652
Wiedemann-Steiner syndrome: three further cases. 61
20803650 2010
653
An emerging phenotype of proximal 11q deletions. 61
20688202 2010
654
Importance of muscle movement for normal craniofacial development. 61
20818259 2010
655
Mosaic ring chromosome 18, ring chromosome 18 duplication/deletion and disomy 18: perinatal findings and molecular cytogenetic characterization by fluorescence in situ hybridization and array comparative genomic hybridization. 61
21056319 2010
656
De novo ring chromosome 6 in a child with multiple congenital anomalies. 61
21063149 2010
657
Identification of a submicroscopic 3.2 Mb chromosomal 16q12.2-13 deletion in a child with short stature, mild developmental delay, and craniofacial anomalies, by high-density oligonucleotide array-a recognizable syndrome. 61
20803649 2010
658
Clinical and molecular characterization of individuals with recurrent genomic disorder at 10q22.3q23.2. 61
20345475 2010
659
Musculoskeletal findings of Loeys-Dietz syndrome. 61
20686062 2010
660
Case of polyhydramnios complicated by Opitz G/BBB syndrome. 61
20666962 2010
661
A Korean family with the Muenke syndrome. 61
20592905 2010
662
Terminal osseous dysplasia with pigmentary defects (TODPD): Follow-up of the first reported family, characterization of the radiological phenotype, and refinement of the linkage region. 61
20583181 2010
663
Hyperphosphatasia with seizures, neurologic deficit, and characteristic facial features: Five new patients with Mabry syndrome. 61
20578257 2010
664
Oral findings in Midline Syndrome: a case report and literature review. 61
20173721 2010
665
Malformations of cortical development in patients with midline facial defects and ocular hypertelorism. 61
20590457 2010
666
Subtelomeric 6p monosomy and 12q trisomy in a patient with a 46,XX,der(6)t(6;12)(p25.3;q24.31) karyotype: Phenotypic overlap with Mutchinick syndrome. 61
20578131 2010
667
Molecular characterization of a de novo 6q24.2q25.3 duplication interrupting UTRN in a patient with arthrogryposis. 61
20583184 2010
668
A case of Baraitser-Winter syndrome with unusual brain MRI findings: pachygyria, subcortical-band heterotopia, and periventricular heterotopia. 61
19477093 2010
669
Patient-specific induced pluripotent stem-cell-derived models of LEOPARD syndrome. 61
20535210 2010
670
A new Ehlers-Danlos syndrome with craniofacial characteristics, multiple congenital contractures, progressive joint and skin laxity, and multisystem fragility-related manifestations. 61
20503305 2010
671
Giant cell lesions in noonan syndrome: case report and review of the literature. 61
20383758 2010
672
MRI findings in the young infant with brainstem disconnection and extracerebral features. Report of one case and review of the literature. 61
19443152 2010
673
Disruption of ALX1 causes extreme microphthalmia and severe facial clefting: expanding the spectrum of autosomal-recessive ALX-related frontonasal dysplasia. 61
20451171 2010
674
Saethre-Chotzen syndrome: a case report. 61
19860490 2010
675
[Fetal ocular anomalies: the advantages of prenatal magnetic resonance imaging]. 61
20451288 2010
676
[Ventricular septal defect, pulmonary hypertension and 3C (cranio-cerebello-cardiac) syndrome: report of a case]. 61
20446611 2010
677
[Hypertelorism and an unclear sinonasal mass]. 61
20424812 2010
678
A primary cilia-dependent etiology for midline facial disorders. 61
20106874 2010
679
Magnetic resonance imaging findings in Loeys-Dietz syndrome. 61
20199709 2010
680
Acute motor and sensory axonal neuropathy in LEOPARD syndrome. 61
20304339 2010
681
Novel deletion at Xq24 including the UBE2A gene in a patient with X-linked mental retardation. 61
20339384 2010
682
LEOPARD syndrome with recurrent PTPN11 mutation Y279C and different cutaneous manifestations: two case reports and a review of the literature. 61
19768645 2010
683
48,XXYY in a General Adult Psychiatry Department. 61
20436773 2010
684
Pallister Killian syndrome: unusual significant postnatal overgrowth in a girl with otherwise typical presentation. 61
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Unusual cardiac phenotype in a newborn with noonan syndrome. 61
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Median facial cleft with a frontoethmoidal encephalocele treated with craniofacial bipartition and free radial forearm flap: a case report. 61
20808538 2010
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Molecular and clinical analysis of RAF1 in Noonan syndrome and related disorders: dephosphorylation of serine 259 as the essential mechanism for mutant activation. 61
20052757 2010
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A large-scale survey of the novel 15q24 microdeletion syndrome in autism spectrum disorders identifies an atypical deletion that narrows the critical region. 61
20678247 2010
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Interstitial deletion of 18q: comparative genomic hybridization array analysis of 46, XX,del(18)(q21.2.q21.33). 61
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Disruption of the podosome adaptor protein TKS4 (SH3PXD2B) causes the skeletal dysplasia, eye, and cardiac abnormalities of Frank-Ter Haar Syndrome. 61
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Schmid-Fraccaro syndrome: severe neurologic features. 61
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8q23-q24 duplication--further delineation of a rare chromosomal abnormality. 61
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Fryns syndrome with atypical findings--with large midline cleft on forehead but normal cranial MRI findings. 61
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694
Al-Awadi/Raas-Rothschild syndrome in a newborn with additional anomalies. 61
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A newborn with acanthosis nigricans: can it be Crouzon syndrome with acanthosis nigricans? 61
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Oral manifestations in Apert syndrome: case presentation and a brief review of the literature. 61
20809043 2010
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Prenatal diagnosis and postmortem findings of Neu-laxova syndrome. 61
24591943 2010
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Investigation of the 22q11.2 candidate region in patients with midline facial defects with hypertelorism. 61
20453311 2010
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A Turkish patient of typical Loeys-Dietz syndrome with a TGFBR2 mutation. 61
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Odontogenic keratocysts in Nevoid basal cell carcinoma syndrome: a case report. 61
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A new autosomal recessive syndrome characterized by ocular hypertelorism, distinctive face, mental retardation, brachydactyly, and genital abnormalities. 61
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Pseudoaminopterin syndrome: clinical report with new characteristics. 61
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Noonan syndrome: introduction and basic clinical features. 61
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ALX4 dysfunction disrupts craniofacial and epidermal development. 61
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Nasopharyngeal encephalocele: report of transcranial and transpalatal repair with a 25-year follow-up. 61
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706
Hypertelorism-microtia-clefting syndrome (HMC syndrome): prenatal diagnosis in two siblings. 61
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Congenital hydrocephalus in an Egyptian baby with trisomy 18: a case report. 61
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Multiple odontogenic keratocysts associated with Gorlin-Goltz syndrome. 61
20502085 2009
709
Mesomelic dysplasia with acral synostoses Verloes-David-Pfeiffer type: follow-up study documents progressive clinical course. 61
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710
Loeys-Dietz syndrome: a Marfan-like syndrome associated with aggressive vasculopathy. 61
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PTPN11 mutations in LEOPARD syndrome: report of four cases in Taiwan. 61
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Phenotype-genotype correlation in a patient with co-occurrence of Marfan and LEOPARD syndromes. 61
19725129 2009
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Partial mosaic trisomy 5: a new case report with ocular involvement. 61
19664845 2009
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Anesthetic managements for correction of aortic valve regurgitation in a patient with Loeys-Dietz Syndrome: A case report. 61
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MLPA analysis in 30 Sotos syndrome patients revealed one total NSD1 deletion and two partial deletions not previously reported. 61
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Neuroradiologic manifestations of Loeys-Dietz syndrome type 1. 61
19556353 2009
717
Q289P mutation in the FGFR2 gene: first report in a patient with type 1 Pfeiffer syndrome. 61
19066959 2009
718
Analysis of multigenerational families with thoracic aortic aneurysms and dissections due to TGFBR1 or TGFBR2 mutations. 61
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719
Sincipital encephaloceles. 61
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Stereolithography: a method for planning the surgical correction of the hypertelorism. 61
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721
Regulation of cell surface protease matriptase by HAI2 is essential for placental development, neural tube closure and embryonic survival in mice. 61
19592578 2009
722
Functional disomy of proximal Xp causes a distinct phenotype comprising early hypotonia, hypertelorism, small hands and feet, ear abnormalities, myopia and cognitive impairment. 61
19610086 2009
723
Partial trisomy 19p13.3 and partial monosomy 1p36.3: Clinical report and a literature review. 61
19610110 2009
724
Characterization of two ectrodactyly-associated translocation breakpoints separated by 2.5 Mb on chromosome 2q14.1-q14.2. 61
19223936 2009
725
Mohr-Claussen syndrome or oro-facial-digital syndrome (OFDS) type-II. 61
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726
Tetrada of the possible mycophenolate mofetil embryopathy: a review. 61
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Sonic hedgehog signalling inhibits palatogenesis and arrests tooth development in a mouse model of the nevoid basal cell carcinoma syndrome. 61
19394325 2009
728
Frank-ter Haar syndrome with unusual clinical features. 61
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Reviewing the evidence for mycophenolate mofetil as a new teratogen: case report and review of the literature. 61
19441125 2009
730
Ocular manifestations in Wolf-Hirschhorn syndrome. 61
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Ophthalmic features in a dysmorphic boy with chromosome 4q deletion and duplication. 61
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Total aortic replacement in Loeys-Dietz syndrome. 61
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Intrauterine exposure to mycophenolate mofetil and multiple congenital anomalies in a newborn: possible teratogenic effect. 61
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734
Craniometaphyseal dysplasia: a case report. 61
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Frontorhiny, a distinctive presentation of frontonasal dysplasia caused by recessive mutations in the ALX3 homeobox gene. 61
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736
Oriental surgical protocol in orbital hypertelorism. 61
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Surgical correction of orbital hypertelorism: a surgical evolution through time. 61
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A patient with ascending aortic dilatation, similar to phenotypes of connective tissue disorders. 61
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739
Two children with subtelomeric 11q deletions: a description and interpretation of their clinical presentations and molecular genetic findings. 61
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Trisomy 9p and Prader-Willi syndromes in an infant resulting from a de-novo unbalanced t(9;15) translocation. 61
19282755 2009
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A report of a patient with duplication of 7p13-->pter and deletion of 2p23-->pter due to a maternal 2p;7p translocation. 61
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742
Jacobsen syndrome. 61
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743
Midline orofacial cleft defects in association with type 1 Duane's retraction syndrome. 61
18691219 2009
744
Mutations in SPINT2 cause a syndromic form of congenital sodium diarrhea. 61
19185281 2009
745
Familial upper eyelid coloboma with ipsilateral anterior hairline abnormality: two new reports of MOTA syndrome. 61
19291776 2009
746
Multiple congenital anomalies/mental retardation syndrome with multiple circumferential skin creases: a new syndrome? 61
19182162 2009
747
Histopathologic findings in ascending aortas from individuals with Loeys-Dietz syndrome (LDS). 61
18852674 2009
748
A review of Donnai-Barrow and facio-oculo-acoustico-renal (DB/FOAR) syndrome: clinical features and differential diagnosis. 61
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749
Frontonasal dysplasia: a family presenting autosomal dominant inheritance pattern. 61
19400543 2009
750
Bilateral ovarian fibroma associated with Gorlin syndrome. 61
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Apert's syndrome: ophthalmic importance and clinical findings. 61
19413227 2009
752
A new sporadic case of early-onset Loeys-Dietz syndrome due to the recurrent mutation p.R528C in the TGFBR2 gene substantiates interindividual clinical variability. 61
19875893 2009
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Prenatal evaluation of a fetus with trisomy 18 and additional balanced de novo Rob(13;14). 61
20067885 2009
754
Coronary artery dilatation in LEOPARD syndrome. A child case and literature review. 61
19207402 2009
755
Gomez-Lopez-Hernandez syndrome: two new cases and review of the literature. 61
19068257 2009
756
Ocular hypertelorism and exotropia as presenting signs in Diamond-Blackfan anemia. 61
19184317 2009
757
A 12 Mb deletion of 6p24.1-->pter in an 18-gestational-week fetus with orofacial clefting, the Dandy-Walker malformation and bilateral multicystic kidneys. 61
19049908 2009
758
Prenatal diagnosis of a case probably with Oral-Facial-Digital Syndrome--Gabrielli type. 61
19650414 2009
759
Developmental delay, dysmorphic features, neonatal spontaneous fractures, wrinkled skin, and hepatic failure: a new metabolic syndrome? 61
19012336 2008
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General anesthesia for a patient with deletion 6q syndrome in addition to laryngomalacia undergoing dental treatment. 61
19106480 2008
761
Apert syndrome: report of a case with emphasis on craniofacial and genetic features. 61
19186770 2008
762
Complex chromosome rearrangement in a child with microcephaly, dysmorphic facial features and mosaicism for a terminal deletion del(18)(q21.32-qter) investigated by FISH and array-CGH: Case report. 61
19014423 2008
763
FLNB Disorders 61
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764
Evolution of the face in Loeys-Dietz syndrome type II: longitudinal observations from infancy in seven cases. 61
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765
Laurin-Sandrow syndrome: review and redefinition. 61
18792985 2008
766
Deletion (1)(p32.2-p32.3) detected by array-CGH in a patient with developmental delay/mental retardation, dysmorphic features and low cholesterol: A new microdeletion syndrome? 61
18680192 2008
767
The many faces of aggressive aortic pathology: Loeys-Dietz syndrome. 61
18827873 2008
768
Clinical and molecular studies of patients with characteristics of Opitz G/BBB syndrome shows a novel MID1 mutation. 61
18697196 2008
769
Agenesis of the corpus callosum in Turner's syndrome: report of a case and review of the literature. 61
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Surgical correction of Tessier number 0 cleft. 61
18812861 2008
771
Fetal ocular distance in normal pregnancies. 61
18843858 2008
772
The RAS/MAPK syndromes: novel roles of the RAS pathway in human genetic disorders. 61
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773
A 7 Mb duplication at 22q13 in a girl with bipolar disorder and hippocampal malformation. 61
18546282 2008
774
Autosomal recessive acro-fronto-facio-nasal dysostosis associated with genitourinary anomalies: a third case report. 61
18553510 2008
775
A 15Mb duplication of 6q24.1-q25.3 associated with typical but milder features of the duplication 6q syndrome. 61
18342594 2008
776
A de novo 7.6Mb tandem duplication of 14q32.2-qter associated with primordial short stature with neurosecretory growth hormone dysfunction, distinct facial anomalies and mild developmental delay. 61
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777
Oral-facial-digital syndrome with vaginal atresia, hydronephrosis and congenital cardiac defect. 61
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778
LEOPARD syndrome: what are café noir spots? 61
18789084 2008
779
Fryns syndrome: case report and review of the literature. 61
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780
Extracranial correction of frontoethmoidal meningoencephaloceles: feasibility and outcome in 52 consecutive cases. 61
18520865 2008
781
A new look at XXYY syndrome: medical and psychological features. 61
18481271 2008
782
"Spectaclesplasty" periorbital rotation advancement in Crouzon syndrome. 61
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783
Schinzel-Giedion syndrome: report of splenopancreatic fusion and proposed diagnostic criteria. 61
18398855 2008
784
Leopard syndrome. 61
18505544 2008
785
MID1 mutations in patients with X-linked Opitz G/BBB syndrome. 61
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786
Effect of ascertainment and genetic features on the phenotype of Klinefelter syndrome. 61
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787
Severe, early onset hypertrophic cardiomyopathy in a family with LEOPARD syndrome. 61
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788
Characterizing the oculoauriculofrontonasal syndrome. 61
18388775 2008
789
Geroderma osteodysplasticum hereditaria and wrinkly skin syndrome in 22 patients from Oman. 61
18348262 2008
790
The Greig cephalopolysyndactyly syndrome. 61
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791
Mandibulofacial dysostosis, acral anomalies and frontonasal dysplasia: a new form of acrofacial dysostosis. 61
18388791 2008
792
[A case of partial trisomy 9pter --> q13 due to paternal balanced translocation t (9;21) (q13;q21)]. 61
18458513 2008
793
Dental findings in Kabuki make-up syndrome: a case report. 61
18402617 2008
794
Frontoethmoidal encephalomeningocoele with colpocephaly: case report and clinical review. 61
17666141 2008
795
The Opitz syndrome gene product MID1 assembles a microtubule-associated ribonucleoprotein complex. 61
18172692 2008
796
Leopard syndrome. 61
18627709 2008
797
The clinical atlas of Greig cephalopolysyndactyly syndrome. 61