TCS1
MCID: TRC072
MIFTS: 63

Treacher Collins Syndrome 1 (TCS1)

Categories: Bone diseases, Ear diseases, Eye diseases, Fetal diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Treacher Collins Syndrome 1

MalaCards integrated aliases for Treacher Collins Syndrome 1:

Name: Treacher Collins Syndrome 1 57 74 29 13 6
Treacher Collins Syndrome 57 12 75 24 53 25 74 37 29 55 6 15
Mandibulofacial Dysostosis 57 12 24 53 25 59 74 44 33
Treacher Collins-Franceschetti Syndrome 57 24 53 25 74
Tcof 57 53 74
Mfd1 57 53 74
Tcs 57 53 74
Franceschetti-Klein Syndrome 59 72
Tcs1 57 74
Mandibulofacial Dysostosis Without Limb Anomalies 59
Bilateral and Symmetric Oto-Mandibular Dysplasia 59
Treacher Collins-Franceschetti Syndrome; Tcof 57
Franceschetti-Zwahlen-Klein Syndrome 25
Treacher Collins Syndrome, Type 1 40
Mandibulofacial Dysostosis; Mfd1 57
Treacher Collins Syndrome; Tcs 57
Zygoauromandibular Dysplasia 25
Treacher-Collins Syndrome 59
Franceschetti Syndrome 12

Characteristics:

Orphanet epidemiological data:

59
treacher-collins syndrome
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: 1-9/100000 (Europe); Age of onset: Neonatal; Age of death: normal life expectancy;

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
treacher collins syndrome 1:
Inheritance autosomal dominant inheritance


GeneReviews:

24
Penetrance While the penetrance of pathogenic variants associated with tcs is high, reduced penetrance in tcof1 has also been reported [dixon et al 2004, vincent et al 2016] and polr1d [dauwerse et al 2011, vincent et al 2016].

Classifications:



External Ids:

Disease Ontology 12 DOID:2908
KEGG 37 H00610
MeSH 44 D008342
NCIt 50 C75018
SNOMED-CT 68 82203000
ICD10 33 Q75.4
MESH via Orphanet 45 D008342
ICD10 via Orphanet 34 Q75.4
UMLS via Orphanet 73 C0242387 C0265241
UMLS 72 C0242387 C0265241

Summaries for Treacher Collins Syndrome 1

Genetics Home Reference : 25 Treacher Collins syndrome is a condition that affects the development of bones and other tissues of the face. The signs and symptoms of this disorder vary greatly, ranging from almost unnoticeable to severe. Most affected individuals have underdeveloped facial bones, particularly the cheek bones, and a very small jaw and chin (micrognathia). Some people with this condition are also born with an opening in the roof of the mouth called a cleft palate. In severe cases, underdevelopment of the facial bones may restrict an affected infant's airway, causing potentially life-threatening respiratory problems. People with Treacher Collins syndrome often have eyes that slant downward, sparse eyelashes, and a notch in the lower eyelids called an eyelid coloboma. Some affected individuals have additional eye abnormalities that can lead to vision loss. This condition is also characterized by absent, small, or unusually formed ears. Hearing loss occurs in about half of all affected individuals; hearing loss is caused by defects of the three small bones in the middle ear, which transmit sound, or by underdevelopment of the ear canal. People with Treacher Collins syndrome usually have normal intelligence.

MalaCards based summary : Treacher Collins Syndrome 1, also known as treacher collins syndrome, is related to acrofacial dysostosis 1, nager type and microtia. An important gene associated with Treacher Collins Syndrome 1 is TCOF1 (Treacle Ribosome Biogenesis Factor 1), and among its related pathways/superpathways are Ribosome biogenesis in eukaryotes and RNA polymerase. The drugs Antibodies and Immunoglobulins have been mentioned in the context of this disorder. Affiliated tissues include bone, eye and heart, and related phenotypes are malar flattening and skeletal dysplasia

NIH Rare Diseases : 53 Treacher Collins syndrome (TCS) is a condition that affects the development of bones and other tissues of the face. The signs and symptoms vary greatly, ranging from almost unnoticeable to severe. Most affected people have underdeveloped facial bones, particularly the cheek bones, and a very small jaw and chin (micrognathia). Other features may include cleft palate, eye abnormalities, and hearing loss. TCS may be caused by mutations in the TCOF1, POLR1C, or POLR1D genes. When the TCOF1 or POLR1D gene is responsible, it is inherited in an autosomal dominant manner. However, about 60% of autosomal dominant cases are due to a new mutation in the gene and are not inherited from a parent. When the POLR1C gene is responsible, it is inherited in an autosomal recessive manner. In some cases, the genetic cause of the condition is unknown.

OMIM : 57 Treacher Collins syndrome is a disorder of craniofacial development. The features include antimongoloid slant of the eyes, coloboma of the lid, micrognathia, microtia and other deformity of the ears, hypoplastic zygomatic arches, and macrostomia. Conductive hearing loss and cleft palate are often present (Dixon, 1996). (154500)

KEGG : 37
Treacher Collins syndrome (TCS) is a rare congenital birth disorder characterized by severe craniofacial defects. Autosomal dominant TCS1 and TCS2 are caused by mutations in the TCOF1 and POLR1D genes, respectively. Autosomal recessive TCS3 is caused by mutations in the POLR1C gene. The majority of TCS cases are caused by a mutation in TCOF1 gene which encodes a putative nucleolar phosphoprotein known as treacle. It has suggested that treacle is involved in the production of ribosomal RNA within cells. POLR1C and POLR1D encode subunits present in RNA polymerase I and III. Both of these polymerases are involved in ribosomal RNA transcription.

UniProtKB/Swiss-Prot : 74 Treacher Collins syndrome 1: A form of Treacher Collins syndrome, a disorder of craniofacial development. Treacher Collins syndrome is characterized by a combination of bilateral downward slanting of the palpebral fissures, colobomas of the lower eyelids with a paucity of eyelashes medial to the defect, hypoplasia of the facial bones, cleft palate, malformation of the external ears, atresia of the external auditory canals, and bilateral conductive hearing loss.

Wikipedia : 75 Treacher Collins syndrome (TCS) is a genetic disorder characterized by deformities of the ears, eyes,... more...

GeneReviews: NBK1532

Related Diseases for Treacher Collins Syndrome 1

Diseases in the Treacher Collins Syndrome 1 family:

Treacher Collins Syndrome 3 Treacher Collins Syndrome 2

Diseases related to Treacher Collins Syndrome 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(showing 824, show less)
# Related Disease Score Top Affiliating Genes
1 acrofacial dysostosis 1, nager type 33.6 TXNL4A SF3B4 EFTUD2
2 microtia 31.5 TCOF1 HOXA2
3 mandibulofacial dysostosis, guion-almeida type 31.2 TXNL4A SF3B4 EFTUD2
4 choanal atresia, posterior 31.2 TXNL4A EFTUD2
5 dysostosis 30.9 SF3B4 POLR1A EFTUD2
6 hemifacial microsomia 30.4 HOXA2 ALX3
7 acrofacial dysostosis 30.3 TXNL4A SF3B4 POLR1A
8 mandibulofacial dysostosis with alopecia 13.0
9 diamond-blackfan anemia 14 with mandibulofacial dysostosis 12.7
10 split-foot deformity with mandibulofacial dysostosis 12.7
11 mandibulofacial dysostosis with macroblepharon and macrostomia 12.6
12 branchial arch syndrome, x-linked 12.5
13 mandibulofacial dysostosis syndrome, bauru type 12.5
14 mandibulofacial dysostosis with ptosis, autosomal dominant 12.5
15 mandibulofacial dysostosis with mental retardation 12.4
16 obsolete: mandibulofacial dysostosis-deafness-postaxial polydactyly syndrome 12.4
17 obsolete: mandibulofacial dysostosis-lymphedema syndrome 12.4
18 transcobalamin ii deficiency 12.0
19 oculoauricular syndrome 11.9
20 acrofacial dysostosis, catania type 11.9
21 acrofacial dysostosis, cincinnati type 11.9
22 acrofacial dysostosis syndrome of rodriguez 11.8
23 microtia-anotia 11.5
24 burn-mckeown syndrome 11.5
25 imperforate oropharynx-costo vetebral anomalies 11.4
26 transcobalamin deficiency 11.4
27 uv-sensitive syndrome 11.3
28 tethered spinal cord syndrome 11.3
29 treacher collins syndrome 3 11.2
30 treacher collins syndrome 2 11.2
31 uv-sensitive syndrome 1 11.2
32 cerebrooculofacioskeletal syndrome 4 11.2
33 uv-sensitive syndrome 2 11.2
34 uv-sensitive syndrome 3 11.2
35 microscopic polyangiitis 11.2
36 cleft palate, isolated 11.0
37 postaxial acrofacial dysostosis 10.9
38 coloboma of macula 10.7
39 sleep apnea 10.7
40 dextrocardia 10.6
41 polyhydramnios 10.5
42 pierre robin syndrome 10.5
43 hyperparathyroidism 10.5
44 weyers acrofacial dysostosis 10.5
45 hypomandibular faciocranial dysostosis 10.5
46 acrofacial dysostosis, palagonia type 10.5
47 acrodysostosis 10.5
48 acrodysostosis with multiple hormone resistance 10.5
49 acrofacial dysostosis, kennedy-teebi type 10.5
50 microcephaly 10.5
51 craniofacial microsomia 10.5
52 isolated pierre robin sequence 10.5
53 hematopoietic stem cell transplantation 10.4
54 tetralogy of fallot 10.4
55 cryptorchidism, unilateral or bilateral 10.4
56 branchiootic syndrome 1 10.4
57 lissencephaly 1 10.4
58 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.4
59 tracheoesophageal fistula 10.4
60 hypertelorism 10.4
61 johnson neuroectodermal syndrome 10.4
62 apnea, obstructive sleep 10.4
63 ear malformation 10.4
64 macrostomia, isolated 10.4
65 tooth agenesis 10.4
66 cleft lip 10.4
67 adenoma 10.4
68 primary hyperparathyroidism 10.4
69 thyroid carcinoma 10.3
70 parathyroid adenoma 10.3
71 ventricular septal defect 10.3
72 heart septal defect 10.3
73 cherubism 10.3
74 palatopharyngeal incompetence 10.3
75 retinal detachment 10.3
76 diastrophic dysplasia 10.3
77 abruzzo-erickson syndrome 10.3
78 alacrima, achalasia, and mental retardation syndrome 10.3
79 bone resorption disease 10.3
80 ectodermal dysplasia 10.3
81 osteomyelitis 10.3
82 amyloidosis 10.3
83 neutropenia 10.2
84 pyelonephritis 10.2
85 glioma 10.2
86 glial tumor 10.2
87 glioblastoma multiforme 10.2
88 acute myocardial infarction 10.2
89 glioblastoma 10.2
90 breast cancer 10.2
91 myeloma, multiple 10.2
92 osteogenic sarcoma 10.2
93 graft-versus-host disease 10.2
94 secondary hyperparathyroidism 10.2
95 acute cystitis 10.2
96 cerebrocostomandibular syndrome 10.2
97 frontonasal dysplasia 1 10.2
98 lacrimal duct defect 10.2
99 radioulnar synostosis 10.2
100 teeth, supernumerary 10.2
101 telecanthus 10.2
102 c syndrome 10.2
103 duodenal atresia 10.2
104 meier-gorlin syndrome 1 10.2
105 tibial hemimelia 10.2
106 diamond-blackfan anemia 10 10.2
107 alkuraya-kucinskas syndrome 10.2
108 orofacial cleft 10.2
109 distal arthrogryposis 10.2
110 isolated ectopia lentis 10.2
111 hypospadias 10.2
112 respiratory failure 10.2
113 dysgammaglobulinemia 10.2
114 synostosis 10.2
115 macrocytic anemia 10.2
116 cutis laxa 10.2
117 thyroid malformation 10.2
118 hard palate cancer 10.2
119 dacryoadenitis 10.2
120 chronic dacryocystitis 10.2
121 dacryocystitis 10.2
122 hypermobile ehlers-danlos syndrome 10.2
123 choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome 10.2
124 congenital radioulnar synostosis 10.2
125 mondini dysplasia 10.2
126 plagiocephaly 10.2
127 cerebral atrophy 10.2
128 hemimelia 10.2
129 congenital amyoplasia 10.2
130 neurofibromatosis, type ii 10.1
131 angelman syndrome 10.1
132 anisocoria 10.1
133 autoimmune disease 10.1
134 neurofibromatosis, type iv, of riccardi 10.1
135 schizophrenia 10.1
136 strabismus 10.1
137 chromosome 2q35 duplication syndrome 10.1
138 tracheoesophageal fistula with or without esophageal atresia 10.1
139 down syndrome 10.1
140 charge syndrome 10.1
141 neuroblastoma 1 10.1
142 fryns microphthalmia syndrome 10.1
143 astigmatism 10.1
144 polydactyly 10.1
145 diamond-blackfan anemia 15 with mandibulofacial dysostosis 10.1
146 spinocerebellar ataxia 36 10.1
147 immunodeficiency, common variable, 10 10.1
148 deficiency anemia 10.1
149 paraganglioma 10.1
150 scoliosis 10.1
151 ptosis 10.1
152 inguinal hernia 10.1
153 dermatomyositis 10.1
154 suppression amblyopia 10.1
155 amblyopia 10.1
156 klippel-feil syndrome 10.1
157 esophageal atresia 10.1
158 microphthalmia 10.1
159 hydrocephalus 10.1
160 cholesteatoma of middle ear 10.1
161 megacolon 10.1
162 regular astigmatism 10.1
163 otosclerosis 10.1
164 anisometropia 10.1
165 congenital toxoplasmosis 10.1
166 diamond-blackfan anemia 10.1
167 communicating hydrocephalus 10.1
168 ankylosis 10.1
169 craniosynostosis 10.1
170 intestinal pseudo-obstruction 10.1
171 middle ear disease 10.1
172 cataract 10.1
173 lung disease 10.1
174 learning disability 10.1
175 achalasia 10.1
176 speech disorder 10.1
177 mechanical strabismus 10.1
178 bacterial meningitis 10.1
179 refractive error 10.1
180 alopecia 10.1
181 hydrocele 10.1
182 toxoplasmosis 10.1
183 aneurysm of sinus of valsalva 10.1
184 chronic intestinal pseudoobstruction 10.1
185 coloboma of iris 10.1
186 congenital hydrocephalus 10.1
187 exencephaly 10.1
188 pectus carinatum 10.1
189 aneurysm 10.1
190 dysphagia 10.1
191 cleft lip/palate 10.1
192 penile agenesis 10.1
193 autosomal anomaly 10.1
194 red cell aplasia 10.1
195 hyperlipoproteinemia, type iii 10.1
196 coronary artery anomaly 10.1
197 lung cancer 10.1
198 fibrosarcoma 10.1
199 liver cirrhosis 10.1
200 vesicoureteral reflux 1 10.1
201 inflammatory bowel disease 10.1
202 rapidly involuting congenital hemangioma 10.1
203 arteries, anomalies of 10.1
204 hair whorl 10.1
205 ovarian cancer 10.1
206 lymphoma 10.1
207 hydronephrosis 10.1
208 coronary stenosis 10.1
209 kidney disease 10.1
210 hypogonadotropic hypogonadism 15 with or without anosmia 10.1
211 goiter 10.1
212 liver disease 10.1
213 pachyonychia congenita 3 10.0
214 meckel diverticulum 10.0
215 triiodothyronine receptor auxiliary protein 10.0
216 graves disease 1 10.0
217 leukemia, acute myeloid 10.0
218 meningioma, radiation-induced 10.0
219 meningioma, familial 10.0
220 angina pectoris 10.0
221 bone disease 10.0
222 spinal meningioma 10.0
223 hypothyroidism 10.0
224 secretory meningioma 10.0
225 lymphoplasmacyte-rich meningioma 10.0
226 acute pyelonephritis 10.0
227 hyperthyroidism 10.0
228 acute graft versus host disease 10.0
229 tremor 10.0
230 alzheimer disease 10.0
231 hepatocellular carcinoma 10.0
232 portal hypertension 10.0
233 adenocarcinoma 10.0
234 ischemia 10.0
235 essential tremor 10.0
236 urinary tract obstruction 10.0
237 thyroiditis 10.0
238 myeloid leukemia 10.0
239 crohn's disease 10.0
240 progressive familial heart block, type ia 9.9
241 small cell cancer of the lung 9.9
242 lymphoma, hodgkin, classic 9.9
243 cervical cancer 9.9
244 pulmonary hypertension, primary, 3 9.9
245 encephalopathy, progressive, early-onset, with episodic rhabdomyolysis 9.9
246 left bundle branch hemiblock 9.9
247 chagas disease 9.9
248 graves' disease 9.9
249 acute kidney tubular necrosis 9.9
250 biliary atresia 9.9
251 melanoma 9.9
252 hemangioma 9.9
253 acute kidney failure 9.9
254 astrocytoma 9.9
255 movement disease 9.9
256 ureteral obstruction 9.9
257 severe combined immunodeficiency 9.9
258 intermediate coronary syndrome 9.9
259 hepatopulmonary syndrome 9.9
260 pulmonary embolism 9.9
261 soft tissue sarcoma 9.9
262 back pain 9.9
263 hypoxia 9.9
264 traumatic brain injury 9.9
265 differentiated thyroid carcinoma 9.9
266 colorectal cancer 9.9
267 thyroid carcinoma, familial medullary 9.9
268 migraine with or without aura 1 9.9
269 prostate cancer 9.9
270 sarcoidosis 1 9.9
271 thrombophilia due to thrombin defect 9.9
272 varicose veins 9.9
273 chondrosarcoma 9.9
274 sarcoma, synovial 9.9
275 lymphoma, non-hodgkin, familial 9.9
276 coronary heart disease 1 9.9
277 myocardial infarction 9.9
278 myelodysplastic syndrome 9.9
279 helix syndrome 9.9
280 mantle cell lymphoma 9.9
281 aphasia 9.9
282 lymphocytic leukemia 9.9
283 acute leukemia 9.9
284 telangiectasis 9.9
285 dilated cardiomyopathy 9.9
286 duodenal ulcer 9.9
287 orchitis 9.9
288 vaccinia 9.9
289 liposarcoma 9.9
290 thyroid gland medullary carcinoma 9.9
291 chronic kidney disease 9.9
292 myocarditis 9.9
293 appendicitis 9.9
294 osteoarthritis 9.9
295 in situ carcinoma 9.9
296 fasciitis 9.9
297 necrotizing fasciitis 9.9
298 47,xyy 9.9
299 48,xyyy 9.9
300 chronic graft versus host disease 9.9
301 cytokine deficiency 9.9
302 prosthetic joint infection 9.9
303 raynaud phenomenon 9.9
304 multiple endocrine neoplasia 9.9
305 brain injury 9.9
306 esophageal cancer 9.8
307 renal cell carcinoma, nonpapillary 9.8
308 leukemia, chronic lymphocytic 9.8
309 osteoporosis 9.8
310 rheumatoid arthritis 9.8
311 neural tube defects 9.8
312 thyroid cancer, nonmedullary, 1 9.8
313 pancreatic cancer 9.8
314 bone mineral density quantitative trait locus 8 9.8
315 bone mineral density quantitative trait locus 15 9.8
316 immunodeficiency 60 9.8
317 ductal carcinoma in situ 9.8
318 crohn's colitis 9.8
319 myelomeningocele 9.8
320 thrombosis 9.8
321 spina bifida occulta 9.8
322 mucositis 9.8
323 osteonecrosis 9.8
324 bacterial infectious disease 9.8
325 osteomalacia 9.8
326 protein-losing enteropathy 9.8
327 hemiplegia 9.8
328 sarcoma 9.8
329 hemopericardium 9.8
330 pericardial effusion 9.8
331 nephrotic syndrome 9.8
332 obstructive jaundice 9.8
333 renovascular hypertension 9.8
334 vascular disease 9.8
335 viral hepatitis 9.8
336 dyspepsia 9.8
337 benign mesothelioma 9.8
338 bilirubin metabolic disorder 9.8
339 testicular cancer 9.8
340 papillary carcinoma 9.8
341 histiocytosis 9.8
342 skin carcinoma 9.8
343 aortic aneurysm 9.8
344 insulinoma 9.8
345 thyroid gland papillary carcinoma 9.8
346 gastritis 9.8
347 spindle cell sarcoma 9.8
348 erdheim-chester disease 9.8
349 congestive heart failure 9.8
350 cerebrovascular disease 9.8
351 b-cell lymphoma 9.8
352 active peptic ulcer disease 9.8
353 chickenpox 9.8
354 skin melanoma 9.8
355 exophthalmos 9.8
356 fatty liver disease 9.8
357 stomatitis 9.8
358 toxocariasis 9.8
359 horseshoe kidney 9.8
360 leukemia, b-cell, chronic 9.8
361 oncogenic osteomalacia 9.8
362 depression 9.8
363 encephalopathy 9.8
364 amyotrophic lateral sclerosis 1 9.7
365 creutzfeldt-jakob disease 9.7
366 multiple endocrine neoplasia, type i 9.7
367 attention deficit-hyperactivity disorder 9.7
368 endosteal hyperostosis, autosomal dominant 9.7
369 hyperparathyroidism 1 9.7
370 multiple system atrophy 1 9.7
371 systemic lupus erythematosus 9.7
372 obsessive-compulsive disorder 9.7
373 parkinson disease, late-onset 9.7
374 schistosoma mansoni infection, susceptibility/ 9.7
375 congenital heart defects, hamartomas of tongue, and polysyndactyly 9.7
376 hemangiopericytoma, malignant 9.7
377 proteasome-associated autoinflammatory syndrome 1 9.7
378 ocular motor apraxia 9.7
379 frontotemporal dementia 9.7
380 suppression of tumorigenicity 12 9.7
381 langerhans cell histiocytosis 9.7
382 pulmonary disease, chronic obstructive 9.7
383 nasopharyngeal carcinoma 9.7
384 leukemia, chronic myeloid 9.7
385 parathyroid carcinoma 9.7
386 major depressive disorder 9.7
387 leukemia, acute lymphoblastic 9.7
388 fatty liver disease, nonalcoholic 1 9.7
389 melioidosis 9.7
390 gastrointestinal ulceration, recurrent, with dysfunctional platelets 9.7
391 congenital hypothyroidism 9.7
392 hypophosphatemia 9.7
393 anaplastic large cell lymphoma 9.7
394 diffuse large b-cell lymphoma 9.7
395 limb ischemia 9.7
396 oral squamous cell carcinoma 9.7
397 fibroma 9.7
398 brain glioma 9.7
399 colitis 9.7
400 gallbladder disease 9.7
401 chronic pyelonephritis 9.7
402 bubonic plague 9.7
403 gastric ulcer 9.7
404 hypoparathyroidism 9.7
405 esophageal varix 9.7
406 parathyroid gland disease 9.7
407 tetanus 9.7
408 lymphocytic choriomeningitis 9.7
409 alcoholic hepatitis 9.7
410 renal osteodystrophy 9.7
411 dementia 9.7
412 brain cancer 9.7
413 nodular goiter 9.7
414 megaloblastic anemia 9.7
415 cardiac sarcoidosis 9.7
416 hepatic infarction 9.7
417 schistosomiasis 9.7
418 cholera 9.7
419 mental depression 9.7
420 breast fibroadenoma 9.7
421 benign breast phyllodes tumor 9.7
422 squamous cell carcinoma 9.7
423 calcinosis 9.7
424 cholecystitis 9.7
425 giant cell tumor 9.7
426 neuroma 9.7
427 enthesopathy 9.7
428 sweat gland cancer 9.7
429 myeloproliferative neoplasm 9.7
430 focal epilepsy 9.7
431 lateral sclerosis 9.7
432 colon adenocarcinoma 9.7
433 skin atrophy 9.7
434 substance abuse 9.7
435 mucinous adenocarcinoma 9.7
436 grade iii astrocytoma 9.7
437 lipid metabolism disorder 9.7
438 rhabdomyosarcoma 9.7
439 teratoma 9.7
440 embryonal carcinoma 9.7
441 temporal lobe epilepsy 9.7
442 bone inflammation disease 9.7
443 extraosseous osteosarcoma 9.7
444 mammary paget's disease 9.7
445 breast adenocarcinoma 9.7
446 breast disease 9.7
447 plague 9.7
448 cellulitis 9.7
449 appendix adenocarcinoma 9.7
450 gastric adenocarcinoma 9.7
451 plasmacytoma 9.7
452 arthropathy 9.7
453 craniopharyngioma 9.7
454 thrombophlebitis 9.7
455 merkel cell carcinoma 9.7
456 cavernous hemangioma 9.7
457 prion disease 9.7
458 anthrax disease 9.7
459 arthritis 9.7
460 ulcerative colitis 9.7
461 vascular dementia 9.7
462 lupus erythematosus 9.7
463 diabetes mellitus 9.7
464 muscular dystrophy 9.7
465 acute respiratory distress syndrome 9.7
466 al amyloidosis 9.7
467 familial isolated hyperparathyroidism 9.7
468 glucagonoma 9.7
469 ovarian epithelial cancer 9.7
470 splenomegaly 9.7
471 head injury 9.7
472 syncope 9.7
473 wild type attr amyloidosis 9.7
474 glomerular disease 9.7
475 thrombotic microangiopathy 9.7
476 precursor t-cell acute lymphoblastic leukemia 9.7
477 aortic aneurysm, familial abdominal, 1 9.6
478 alcohol dependence 9.6
479 cerebral amyloid angiopathy, cst3-related 9.6
480 amyloidosis, hereditary, transthyretin-related 9.6
481 atherosclerosis susceptibility 9.6
482 atrial standstill 1 9.6
483 gastroesophageal reflux 9.6
484 bladder cancer 9.6
485 blue rubber bleb nevus 9.6
486 burkitt lymphoma 9.6
487 cardiac conduction defect 9.6
488 erythroleukemia, familial 9.6
489 felty syndrome 9.6
490 diaphragmatic hernia, congenital 9.6
491 hernia, hiatus 9.6
492 hypercholesterolemia, familial, 1 9.6
493 lipomatosis, multiple 9.6
494 medulloblastoma 9.6
495 mesothelioma, malignant 9.6
496 myositis 9.6
497 nephrolithiasis, calcium oxalate 9.6
498 papillomatosis, confluent and reticulated 9.6
499 pheochromocytoma 9.6
500 pneumothorax, primary spontaneous 9.6
501 polykaryocytosis inducer 9.6
502 greig cephalopolysyndactyly syndrome 9.6
503 pelvic organ prolapse 9.6
504 pulmonary fibrosis, idiopathic 9.6
505 scleroderma, familial progressive 9.6
506 thyroid cancer, nonmedullary, 2 9.6
507 suppressor of tumorigenicity 3 9.6
508 ureterocele 9.6
509 long qt syndrome 1 9.6
510 chordoma 9.6
511 hypothyroidism, congenital, nongoitrous, 2 9.6
512 neurodegeneration with brain iron accumulation 1 9.6
513 hemolytic uremic syndrome, atypical 1 9.6
514 hydrocephalus, normal-pressure 9.6
515 familial mediterranean fever 9.6
516 myelofibrosis 9.6
517 osteoid osteoma 9.6
518 periodontitis, chronic 9.6
519 scott syndrome 9.6
520 pulmonary alveolar microlithiasis 9.6
521 thymoma, familial 9.6
522 squamous cell carcinoma, head and neck 9.6
523 xeroderma pigmentosum, variant type 9.6
524 dent disease 1 9.6
525 body mass index quantitative trait locus 11 9.6
526 muscular dystrophy, becker type 9.6
527 lowe oculocerebrorenal syndrome 9.6
528 muscular dystrophy, duchenne type 9.6
529 androgen insensitivity, partial 9.6
530 ataxia and polyneuropathy, adult-onset 9.6
531 hyperparathyroidism, primary, caused by water clear cell hyperplasia 9.6
532 brittle bone disorder 9.6
533 sickle cell anemia 9.6
534 body mass index quantitative trait locus 1 9.6
535 creatinine clearance quantitative trait locus 9.6
536 allergic rhinitis 9.6
537 mammographic density 9.6
538 psoriatic arthritis 9.6
539 juvenile myelomonocytic leukemia 9.6
540 endometrial cancer 9.6
541 platelet glycoprotein iv deficiency 9.6
542 inflammatory bowel disease 9 9.6
543 human immunodeficiency virus type 1 9.6
544 lipomyelomeningocele 9.6
545 hyperparathyroidism 3 9.6
546 thrombocytopenia 4 9.6
547 chondrosarcoma, extraskeletal myxoid 9.6
548 major affective disorder 8 9.6
549 major affective disorder 9 9.6
550 inflammatory bowel disease 24 9.6
551 lung cancer susceptibility 3 9.6
552 microvascular complications of diabetes 3 9.6
553 microvascular complications of diabetes 4 9.6
554 microvascular complications of diabetes 6 9.6
555 microvascular complications of diabetes 7 9.6
556 neuroblastoma 2 9.6
557 ectodermal dysplasia-syndactyly syndrome 2 9.6
558 gastric cancer 9.6
559 blood group, cromer system 9.6
560 aspergillosis 9.6
561 barrett esophagus 9.6
562 diarrhea 6 9.6
563 leptin deficiency or dysfunction 9.6
564 cholangiocarcinoma 9.6
565 hydrops, lactic acidosis, and sideroblastic anemia 9.6
566 peripheral vascular disease 9.6
567 chronic diarrhea due to guanylate cyclase 2c overactivity 9.6
568 pulmonary hypertension 9.6
569 invasive aspergillosis 9.6
570 cryptogenic organizing pneumonia 9.6
571 periventricular nodular heterotopia 9.6
572 exanthem 9.6
573 multinodular goiter 9.6
574 severe congenital neutropenia 9.6
575 alternating hemiplegia of childhood 9.6
576 female breast cancer 9.6
577 small cell carcinoma 9.6
578 peripheral t-cell lymphoma 9.6
579 secondary progressive multiple sclerosis 9.6
580 hemidystonia 9.6
581 follicular lymphoma 9.6
582 adrenal gland pheochromocytoma 9.6
583 ameloblastoma 9.6
584 withdrawal disorder 9.6
585 interleukin-7 receptor alpha deficiency 9.6
586 brain meningioma 9.6
587 atrial fibrillation 9.6
588 paroxysmal nocturnal hemoglobinuria 9.6
589 cardiac arrest 9.6
590 ectopic pregnancy 9.6
591 chronic myelomonocytic leukemia 9.6
592 renal hypoplasia 9.6
593 non-alcoholic fatty liver disease 9.6
594 polycystic kidney disease 9.6
595 non-alcoholic steatohepatitis 9.6
596 sensorineural hearing loss 9.6
597 migraine with aura 9.6
598 ileum cancer 9.6
599 pleomorphic lipoma 9.6
600 cholelithiasis 9.6
601 thalassemia 9.6
602 endocarditis 9.6
603 prolymphocytic leukemia 9.6
604 glucose intolerance 9.6
605 amnestic disorder 9.6
606 antisocial personality disorder 9.6
607 discitis 9.6
608 depersonalization disorder 9.6
609 placenta praevia 9.6
610 disseminated intravascular coagulation 9.6
611 arteriovenous malformation 9.6
612 gingival recession 9.6
613 diphtheria 9.6
614 cauda equina syndrome 9.6
615 infant gynecomastia 9.6
616 penile cancer 9.6
617 diabetic angiopathy 9.6
618 lyme disease 9.6
619 choledocholithiasis 9.6
620 splenic sequestration 9.6
621 visual epilepsy 9.6
622 esophagitis 9.6
623 allergic hypersensitivity disease 9.6
624 hemosiderosis 9.6
625 bile reflux 9.6
626 vulva cancer 9.6
627 pancytopenia 9.6
628 bell's palsy 9.6
629 hepatic coma 9.6
630 hemolytic-uremic syndrome 9.6
631 acoustic neuroma 9.6
632 gynecomastia 9.6
633 tolosa-hunt syndrome 9.6
634 enterocele 9.6
635 rectal disease 9.6
636 keratoconjunctivitis sicca 9.6
637 carotid stenosis 9.6
638 vertebrobasilar insufficiency 9.6
639 uveitis 9.6
640 endemic goiter 9.6
641 typhoid fever 9.6
642 neurosarcoidosis 9.6
643 hepatic encephalopathy 9.6
644 cholestasis 9.6
645 patent foramen ovale 9.6
646 familial hypercholesterolemia 9.6
647 polyneuropathy 9.6
648 amenorrhea 9.6
649 bacteriuria 9.6
650 lymphangioma 9.6
651 personality disorder 9.6
652 urticaria 9.6
653 alcohol use disorder 9.6
654 rheumatic disease 9.6
655 rheumatic fever 9.6
656 pneumothorax 9.6
657 islet cell tumor 9.6
658 ossifying fibroma 9.6
659 neuroendocrine carcinoma 9.6
660 status epilepticus 9.6
661 epilepsy 9.6
662 leiomyosarcoma 9.6
663 constipation 9.6
664 b cell deficiency 9.6
665 brain sarcoma 9.6
666 hepatitis 9.6
667 spondylolysis 9.6
668 arteriosclerosis 9.6
669 neonatal jaundice 9.6
670 familial nephrotic syndrome 9.6
671 larynx cancer 9.6
672 kidney cancer 9.6
673 struma ovarii 9.6
674 cystic teratoma 9.6
675 transitional cell carcinoma 9.6
676 synovitis 9.6
677 dermatitis 9.6
678 idiopathic interstitial pneumonia 9.6
679 long qt syndrome 9.6
680 acute pancreatitis 9.6
681 glomerulonephritis 9.6
682 newcastle disease 9.6
683 cockayne syndrome 9.6
684 breast ductal carcinoma 9.6
685 malignant glioma 9.6
686 interstitial lung disease 9.6
687 serous cystadenocarcinoma 9.6
688 oligodendroglioma 9.6
689 neurilemmoma 9.6
690 myelitis 9.6
691 complex regional pain syndrome 9.6
692 thymoma 9.6
693 bipolar disorder 9.6
694 angiomyolipoma 9.6
695 mood disorder 9.6
696 mesenchymal cell neoplasm 9.6
697 lateral medullary syndrome 9.6
698 pulmonary fibrosis 9.6
699 pituitary adenoma 9.6
700 acute myocarditis 9.6
701 thyroid gland follicular carcinoma 9.6
702 duodenogastric reflux 9.6
703 pancreatic adenocarcinoma 9.6
704 biliary dyskinesia 9.6
705 ganglioneuroblastoma 9.6
706 syphilis 9.6
707 systemic scleroderma 9.6
708 hyperglycemia 9.6
709 brain stem glioma 9.6
710 myopathy 9.6
711 non-langerhans-cell histiocytosis 9.6
712 hepatitis e 9.6
713 rhinitis 9.6
714 extraosseous chondrosarcoma 9.6
715 bile duct cancer 9.6
716 ependymoblastoma 9.6
717 bronchiolo-alveolar adenocarcinoma 9.6
718 intrahepatic cholangiocarcinoma 9.6
719 thyroid gland disease 9.6
720 infertility 9.6
721 hemangioblastoma 9.6
722 heart sarcoma 9.6
723 pulmonary coin lesion 9.6
724 pneumonia 9.6
725 acute t cell leukemia 9.6
726 eye disease 9.6
727 adrenal neuroblastoma 9.6
728 peripheral nervous system disease 9.6
729 hemoglobinuria 9.6
730 myxoid chondrosarcoma 9.6
731 panic disorder 9.6
732 follicular adenoma 9.6
733 central pontine myelinolysis 9.6
734 hypersplenism 9.6
735 connective tissue disease 9.6
736 inherited metabolic disorder 9.6
737 myositis ossificans 9.6
738 spinal stenosis 9.6
739 fibrillary astrocytoma 9.6
740 bilateral breast cancer 9.6
741 subacute thyroiditis 9.6
742 monoclonal gammopathy of uncertain significance 9.6
743 peptic ulcer disease 9.6
744 carotid artery occlusion 9.6
745 fetal adenoma 9.6
746 septic arthritis 9.6
747 mediastinitis 9.6
748 periodontitis 9.6
749 afferent loop syndrome 9.6
750 ileus 9.6
751 influenza 9.6
752 monocytic leukemia 9.6
753 hodgkin's lymphoma, lymphocytic-histiocytic predominance 9.6
754 chronic fatigue syndrome 9.6
755 herpes simplex 9.6
756 oral cavity cancer 9.6
757 tongue cancer 9.6
758 myeloid sarcoma 9.6
759 neuropathy 9.6
760 atrophic gastritis 9.6
761 status asthmaticus 9.6
762 keratoconjunctivitis 9.6
763 diabetes insipidus 9.6
764 allergic asthma 9.6
765 cholangitis 9.6
766 meningitis 9.6
767 periostitis 9.6
768 col1a1/2-related osteogenesis imperfecta 9.6
769 dystrophinopathies 9.6
770 hereditary transthyretin amyloidosis 9.6
771 hypertrophic cardiomyopathy 9.6
772 sickle cell disease 9.6
773 anaplastic oligodendroglioma 9.6
774 anterior uveitis 9.6
775 binswanger's disease 9.6
776 central pain syndrome 9.6
777 chromosomal triplication 9.6
778 dentinogenesis imperfecta type 2 9.6
779 embryonal tumor with multilayered rosettes 9.6
780 enterovesical fistula 9.6
781 fibromatosis 9.6
782 germ cells tumors 9.6
783 hemiplegic migraine 9.6
784 kienbock's disease 9.6
785 lymphangiectasis 9.6
786 nonseminomatous germ cell tumor 9.6
787 oral cancer 9.6
788 orbital varix 9.6
789 pleuroparenchymal fibroelastosis 9.6
790 post-transplant lymphoproliferative disease 9.6
791 primary intestinal lymphangiectasia 9.6
792 retroperitoneal fibrosis 9.6
793 secondary adrenal insufficiency 9.6
794 spondylarthropathy 9.6
795 t-cell prolymphocytic leukemia 9.6
796 sporadic hemiplegic migraine 9.6
797 anoxia 9.6
798 autonomic dysfunction 9.6
799 extrapontine myelinolysis 9.6
800 headache 9.6
801 hypotonia 9.6
802 pituitary tumors 9.6
803 seizure disorder 9.6
804 spasticity 9.6
805 mixed germ cell tumor 9.6
806 low-grade astrocytoma 9.6
807 specific language disorder 9.6
808 rare lymphatic malformation 9.6
809 rare hereditary hemochromatosis 9.6
810 tubulocystic renal cell carcinoma 9.6
811 juvenile nasopharyngeal angiofibroma 9.6
812 homozygous familial hypercholesterolemia 9.6
813 malignant tumor of penis 9.6
814 osteonecrosis of the jaw 9.6
815 avascular necrosis 9.6
816 obsolete: squamous cell carcinoma of head and neck 9.6
817 pik3ca-related overgrowth syndrome 9.6
818 acute liver failure 9.6
819 renal dysplasia 9.6
820 lymphedema 9.6
821 familial thyroid dyshormonogenesis 9.6
822 multiple system atrophy, parkinsonian type 9.6
823 undetermined colitis 9.6
824 thyroid tumor 9.6

Graphical network of the top 20 diseases related to Treacher Collins Syndrome 1:



Diseases related to Treacher Collins Syndrome 1

Symptoms & Phenotypes for Treacher Collins Syndrome 1

Human phenotypes related to Treacher Collins Syndrome 1:

59 32 (showing 77, show less)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 malar flattening 59 32 very rare (1%) Very frequent (99-80%) HP:0000272
2 skeletal dysplasia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002652
3 open bite 59 32 hallmark (90%) Very frequent (99-80%) HP:0010807
4 micrognathia 59 32 very rare (1%) Very frequent (99-80%) HP:0000347
5 retrognathia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000278
6 hypoplasia of the maxilla 59 32 hallmark (90%) Very frequent (99-80%) HP:0000327
7 abnormality of bone mineral density 59 32 hallmark (90%) Very frequent (99-80%) HP:0004348
8 downslanted palpebral fissures 59 32 very rare (1%) Very frequent (99-80%) HP:0000494
9 midface retrusion 59 32 hallmark (90%) Very frequent (99-80%) HP:0011800
10 short face 59 32 hallmark (90%) Very frequent (99-80%) HP:0011219
11 hypoplasia of the zygomatic bone 32 hallmark (90%) HP:0010669
12 frontal bossing 59 32 frequent (33%) Frequent (79-30%) HP:0002007
13 wide nasal bridge 59 32 frequent (33%) Frequent (79-30%) HP:0000431
14 microtia 59 32 very rare (1%) Frequent (79-30%) HP:0008551
15 visual impairment 59 32 frequent (33%) Frequent (79-30%) HP:0000505
16 strabismus 59 32 frequent (33%) Frequent (79-30%) HP:0000486
17 iris coloboma 59 32 frequent (33%) Frequent (79-30%) HP:0000612
18 conductive hearing impairment 59 32 very rare (1%) Frequent (79-30%) HP:0000405
19 reduced number of teeth 59 32 frequent (33%) Frequent (79-30%) HP:0009804
20 low anterior hairline 59 32 frequent (33%) Frequent (79-30%) HP:0000294
21 narrow internal auditory canal 59 32 frequent (33%) Frequent (79-30%) HP:0011386
22 absent eyelashes 59 32 frequent (33%) Frequent (79-30%) HP:0000561
23 eyelid coloboma 32 frequent (33%) HP:0000625
24 hypertelorism 59 32 occasional (7.5%) Occasional (29-5%) HP:0000316
25 high palate 59 32 occasional (7.5%) Occasional (29-5%) HP:0000218
26 failure to thrive 59 32 occasional (7.5%) Occasional (29-5%) HP:0001508
27 respiratory insufficiency 59 32 occasional (7.5%) Occasional (29-5%) HP:0002093
28 dysphasia 59 32 occasional (7.5%) Occasional (29-5%) HP:0002357
29 cataract 59 32 occasional (7.5%) Occasional (29-5%) HP:0000518
30 global developmental delay 59 32 occasional (7.5%) Occasional (29-5%) HP:0001263
31 brachycephaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0000248
32 glossoptosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0000162
33 cleft palate 59 32 very rare (1%) Occasional (29-5%) HP:0000175
34 patent ductus arteriosus 59 32 occasional (7.5%) Occasional (29-5%) HP:0001643
35 narrow mouth 59 32 occasional (7.5%) Occasional (29-5%) HP:0000160
36 tracheoesophageal fistula 59 32 occasional (7.5%) Occasional (29-5%) HP:0002575
37 cryptorchidism 59 32 occasional (7.5%) Occasional (29-5%) HP:0000028
38 wide mouth 59 32 occasional (7.5%) Occasional (29-5%) HP:0000154
39 microphthalmia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000568
40 cleft upper lip 59 32 occasional (7.5%) Occasional (29-5%) HP:0000204
41 choanal atresia 59 32 very rare (1%) Occasional (29-5%) HP:0000453
42 preauricular skin tag 59 32 occasional (7.5%) Occasional (29-5%) HP:0000384
43 abnormality of the adrenal glands 59 32 occasional (7.5%) Occasional (29-5%) HP:0000834
44 abnormality of dental enamel 59 32 occasional (7.5%) Occasional (29-5%) HP:0000682
45 hypoplasia of the thymus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000778
46 hypoplasia of penis 59 32 occasional (7.5%) Occasional (29-5%) HP:0008736
47 abnormality of dental morphology 59 32 occasional (7.5%) Occasional (29-5%) HP:0006482
48 abnormality of the vertebral column 59 32 occasional (7.5%) Occasional (29-5%) HP:0000925
49 blepharospasm 59 32 occasional (7.5%) Occasional (29-5%) HP:0000643
50 multiple enchondromatosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0005701
51 rectovaginal fistula 59 32 occasional (7.5%) Occasional (29-5%) HP:0000143
52 encephalocele 59 32 occasional (7.5%) Occasional (29-5%) HP:0002084
53 scrotal hypoplasia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000046
54 facial cleft 59 32 occasional (7.5%) Occasional (29-5%) HP:0002006
55 thyroid hypoplasia 59 32 occasional (7.5%) Occasional (29-5%) HP:0005990
56 branchial fistula 59 32 occasional (7.5%) Occasional (29-5%) HP:0009795
57 intellectual disability 32 very rare (1%) HP:0001249
58 atresia of the external auditory canal 32 very rare (1%) HP:0000413
59 upper eyelid coloboma 32 very rare (1%) HP:0000636
60 projection of scalp hair onto lateral cheek 32 very rare (1%) HP:0009554
61 ptosis 32 HP:0000508
62 abnormality of the dentition 59 Frequent (79-30%)
63 abnormal facial shape 59 Very frequent (99-80%)
64 malformation of the heart and great vessels 59 Occasional (29-5%)
65 visual loss 32 HP:0000572
66 cleft eyelid 59 Frequent (79-30%)
67 cheekbone underdevelopment 59 Very frequent (99-80%)
68 abnormality of the hair 59 Occasional (29-5%)
69 abnormality of the middle ear 59 Frequent (79-30%)
70 lower eyelid coloboma 32 HP:0000652
71 sparse lower eyelashes 32 HP:0007776
72 abnormal heart morphology 32 HP:0001627
73 bilateral microphthalmos 32 HP:0007633
74 cleft soft palate 32 HP:0000185
75 hypoplasia of the pharynx 32 HP:0009555
76 lacrimal duct stenosis 32 HP:0007678
77 abnormal parotid gland morphology 32 HP:0000197

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
lower eyelid coloboma
downslanting palpebral fissures
partial absence of lower eyelashes

Head And Neck Mouth:
macrostomia
mandibular hypoplasia
cleft palate (rare)
palatopharyngeal incompetence

Head And Neck Ears:
hearing loss, conductive
malformation of auricle
ear tags
blind fistulas

Head And Neck Face:
malar hypoplasia
projection of scalp hair onto the lateral cheek

Clinical features from OMIM:

154500

Drugs & Therapeutics for Treacher Collins Syndrome 1

Drugs for Treacher Collins Syndrome 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(showing 5, show less)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Antibodies
2 Immunoglobulins
3 Pepsin A
4 Antibodies, Monoclonal
5 Gastrointestinal Agents

Interventional clinical trials:

(showing 4, show less)
# Name Status NCT ID Phase Drugs
1 Suitable Method for Routine Diagnostics of EER in Children With Otitis Media With Effusion Completed NCT02183974
2 Positive Exposure: A Photography and Video Intervention for Individuals With Craniofacial Differences Completed NCT00340964
3 Comparison of Three Methods Used in the Diagnosis of Extraesophageal Reflux in Children With Chronic Otitis Media With Effusion Completed NCT02183961
4 Comparative Study Between Internal and External Distraction Osteogenesis in Lower Face Asymmetry Not yet recruiting NCT03540329

Search NIH Clinical Center for Treacher Collins Syndrome 1

Cochrane evidence based reviews: mandibulofacial dysostosis

Genetic Tests for Treacher Collins Syndrome 1

Genetic tests related to Treacher Collins Syndrome 1:

# Genetic test Affiliating Genes
1 Treacher Collins Syndrome 29
2 Treacher Collins Syndrome 1 29 TCOF1

Anatomical Context for Treacher Collins Syndrome 1

MalaCards organs/tissues related to Treacher Collins Syndrome 1:

41
Bone, Eye, Heart, Thymus, Skin, Thyroid, Adrenal Gland

Publications for Treacher Collins Syndrome 1

Articles related to Treacher Collins Syndrome 1:

(showing 672, show less)
# Title Authors PMID Year
1
High mutation detection rate in TCOF1 among Treacher Collins syndrome patients reveals clustering of mutations and 16 novel pathogenic changes. 9 38 4 8 71
11013442 2000
2
TCOF1 gene encodes a putative nucleolar phosphoprotein that exhibits mutations in Treacher Collins Syndrome throughout its coding region. 9 38 4 8 71
9096354 1997
3
The mutational spectrum in Treacher Collins syndrome reveals a predominance of mutations that create a premature-termination codon. 38 4 8 71
9042910 1997
4
Novel craniofacial and extracraniofacial findings in a case of Treacher Collins syndrome with a pathogenic mutation and a missense variant in the TCOF1 gene. 9 38 8 71
19050407 2009
5
Treacher Collins syndrome with craniosynostosis, choanal atresia, and esophageal regurgitation caused by a novel nonsense mutation in TCOF1. 9 38 8 71
15214011 2004
6
The hutterite variant of Treacher Collins syndrome: a 28-year-old story solved. 38 8 71
24108658 2013
7
Genotyping in 46 patients with tentative diagnosis of Treacher Collins syndrome revealed unexpected phenotypic variation. 9 38 4 8
15340364 2004
8
Mosaicism of a TCOF1 mutation in an individual clinically unaffected with Treacher Collins syndrome. 9 38 4 71
15039977 2004
9
Tissue-selective effects of nucleolar stress and rDNA damage in developmental disorders. 38 4 8
29364875 2018
10
Treacher Collins syndrome: a clinical and molecular study based on a large series of patients. 38 4 8
25790162 2016
11
Autosomal recessive POLR1D mutation with decrease of TCOF1 mRNA is responsible for Treacher Collins syndrome. 38 4 71
24603435 2014
12
Mutations in genes encoding subunits of RNA polymerases I and III cause Treacher Collins syndrome. 38 4 71
21131976 2011
13
Positional cloning of a gene involved in the pathogenesis of Treacher Collins syndrome. The Treacher Collins Syndrome Collaborative Group. 38 4 71
8563749 1996
14
Mandibulofacial dysostosis in Hutterite sibs: a possible recessive trait. 8 71
4061487 1985
15
Mandibulo-facial dysostosis. (Treacher-Collins syndrome). 38 4 8
6024864 1967
16
Gross deletions in TCOF1 are a cause of Treacher-Collins-Franceschetti syndrome. 4 8
22317976 2012
17
Defects in middle ear cavitation cause conductive hearing loss in the Tcof1 mutant mouse. 9 38 8
20106873 2010
18
Novel mutation in the 5' splice site of exon 4 of the TCOF1 gene in the patient with Treacher Collins syndrome. 9 38 71
14598341 2003
19
Screening of TCOF1 in patients from different populations: confirmation of mutational hot spots and identification of a novel missense mutation that suggests an important functional domain in the protein treacle. 4 71
12114482 2002
20
Detection of an appropriate kinase activity in branchial arches I and II that coincides with peak expression of the Treacher Collins syndrome gene product, treacle. 9 38 8
10545604 1999
21
Narrowing the position of the Treacher Collins syndrome locus to a small interval between three new microsatellite markers at 5q32-33.1. 9 38 8
8488840 1993
22
Genetic and physical mapping of the Treacher Collins syndrome locus: refinement of the localization to chromosome 5q32-33.2. 9 38 8
1303194 1992
23
A synonymous mutation in TCOF1 causes Treacher Collins syndrome due to mis-splicing of a constitutive exon. 9 38 4
19572402 2009
24
Treacher Collins syndrome: etiology, pathogenesis and prevention. 9 38 4
19107148 2009
25
The Treacher Collins syndrome (TCOF1) gene product is involved in pre-rRNA methylation. 9 38 4
15930015 2005
26
Mutational analysis of the TCOF1 gene in 11 Japanese patients with Treacher Collins Syndrome and mechanism of mutagenesis. 9 38 4
15759264 2005
27
Delayed-onset infantile cataracts in a case of Treacher Collins syndrome. 38 8
15534141 2004
28
Treacher Collins Syndrome 38 71
20301704 2004
29
Identification of mutations in TCOF1: use of molecular analysis in the pre- and postnatal diagnosis of Treacher Collins syndrome. 9 38 4
15150774 2004
30
Parental origin of mutations in sporadic cases of Treacher Collins syndrome. 38 8
12939661 2003
31
Proteomic analysis of human Nop56p-associated pre-ribosomal ribonucleoprotein complexes. Possible link between Nop56p and the nucleolar protein treacle responsible for Treacher Collins syndrome. 9 38 4
12777385 2003
32
Mutation testing in Treacher Collins Syndrome. 9 38 4
12444270 2002
33
Characterization of the nucleolar gene product, treacle, in Treacher Collins syndrome. 9 38 4
10982400 2000
34
Increased levels of apoptosis in the prefusion neural folds underlie the craniofacial disorder, Treacher Collins syndrome. 9 38 4
10888597 2000
35
Mutations in the Treacher Collins syndrome gene lead to mislocalization of the nucleolar protein treacle. 38 8
9736782 1998
36
Treacher Collins syndrome may result from insertions, deletions or splicing mutations, which introduce a termination codon into the gene. 9 38 4
8894686 1996
37
Prenatal diagnosis in Treacher Collins syndrome using combined linkage analysis and ultrasound imaging. 38 8
8818950 1996
38
Treacher Collins syndrome. 38 8
8875242 1996
39
Treacher Collins syndrome: phenotypic variability in a family including an infant with arhinia and uveal colobomas. 38 8
8741923 1996
40
Mild mandibulofacial dysostosis in a child with a deletion of 3p. 38 8
8322816 1993
41
Chromosomal deletion 4p15.32----p14 in a Treacher Collins syndrome patient: exclusion of the disease locus from and mapping of anonymous DNA sequences to this region. 38 8
1684950 1991
42
Mapping the Treacher Collins syndrome locus to 5q31.3----q33.3. 38 8
1765376 1991
43
The gene for Treacher Collins syndrome maps to the long arm of chromosome 5. 38 8
1676560 1991
44
Association of Treacher Collins syndrome and translocation 6p21.31/16p13.11: exclusion of the locus from these candidate regions. 38 8
1671319 1991
45
Mandibulofacial dysostosis (Treacher Collins syndrome): a new proposal for its pathogenesis. 38 8
3474899 1987
46
Older paternal age and fresh gene mutation: data on additional disorders. 38 8
1110452 1975
47
THE TREACHER-COLLINS SYNDROME. 38 8
14216013 1964
48
Chronic intestinal pseudo-obstruction in a child with Treacher Collins syndrome. 38 4
28927774 2017
49
The Roles of RNA Polymerase I and III Subunits Polr1c and Polr1d in Craniofacial Development and in Zebrafish Models of Treacher Collins Syndrome. 38 4
27448281 2016
50
Large deletions encompassing the TCOF1 and CAMK2A genes are responsible for Treacher Collins syndrome with intellectual disability. 38 4
23695276 2014
51
Mandibulofacial dysostosis (Treacher-Collins syndrome) in the fetus: novel association with Pectus carinatum in a molecularly confirmed case and review of the fetal phenotype. 38 4
24288143 2013
52
Prenatal diagnosis of treacher-collins syndrome using three-dimensional ultrasonography and differential diagnosis with other acrofacial dysostosis syndromes. 38 4
23653874 2013
53
First Report of a Single Exon Deletion in TCOF1 Causing Treacher Collins Syndrome. 38 4
22712005 2012
54
Treacher Collins syndrome: protocol management from birth to maturity. 38 4
19881372 2009
55
Treacher Collins syndrome: unmasking the role of Tcof1/treacle. 38 4
19027870 2009
56
Treacher Collins syndrome: an undescribed characteristic of the condition and its management with botulinum toxin and surgery. 38 4
19098560 2008
57
Surgical treatment of Treacher Collins syndrome. 38 4
16641634 2006
58
Prevalence of dental anomalies, ectopic eruption and associated oral malformations in subjects with Treacher Collins syndrome. 38 4
16632269 2006
59
Another face of the Treacher Collins syndrome (TCOF1) gene: identification of additional exons. 38 4
15019983 2004
60
The fetal mandible: a 2D and 3D sonographic approach to the diagnosis of retrognathia and micrognathia. 38 4
11876802 2002
61
Clinical features, treatment and genetic background of Treacher Collins syndrome. 38 4
12080178 2002
62
Hearing loss in the Treacher-Collins syndrome. 38 4
12408086 2002
63
Treacher Collins syndrome: current evaluation, treatment, and future directions. 38 4
11034023 2000
64
The Treacher Collins syndrome (TCOF1) gene product, treacle, is targeted to the nucleolus by signals in its C-terminus. 38 4
9811939 1998
65
Treacher Collins syndrome: perspectives in evaluation and treatment. 38 4
9331237 1997
66
Sequence analysis, identification of evolutionary conserved motifs and expression analysis of murine tcof1 provide further evidence for a potential function for the gene and its human homologue, TCOF1. 38 4
9158147 1997
67
Identification of the complete coding sequence and genomic organization of the Treacher Collins syndrome gene. 38 4
9074926 1997
68
Apparent genetic homogeneity of the Treacher Collins-Franceschetti syndrome. 8
7802004 1994
69
Ophthalmic features and visual prognosis in the Treacher-Collins syndrome. 38 4
8218033 1993
70
Multiple congenital anomalies associated with apparently normal maternal intake of vitamin A: a phenocopy of the isotretinoin syndrome? 8
3474898 1987
71
Midtrimester sonographic diagnosis of mandibulofacial dysostosis. 8
3535501 1986
72
Franceschetti syndrome in a child with a de novo balanced translocation (5;13)(q11;p11) and significant decrease of hexosaminidase B. 8
6224737 1983
73
Anatomical abnormalities in mandibulofacial dysostosis. 8
484595 1979
74
MANDIBULOFACIAL DYSOSTOSIS, A FAMILIAL STUDY OF FIVE GENERATIONS. 8
14198411 1964
75
CONGENITAL MIDDLE-EAR DEAFNESS WITH ANOMALIES OF THE FACE. 8
14126278 1964
76
Mandibulofacial dysostosis. 8
13835025 1960
77
[2 Cases of mandibulofacial dysostosis or Franceschetti's syndrome]. 8
13856174 1960
78
Genetical investigations in a North-Swedish population; mandibulo-facial dysostosis. 8
13339076 1955
79
The mandibulofacial dysostosis; a new hereditary syndrome. 8
18142195 1949
80
Facial dysostoses: Etiology, pathogenesis and management. 4
24123981 2013
81
Reduced transcription of TCOF1 in adult cells of Treacher Collins syndrome patients. 9 38
20003452 2009
82
Treacle recruits RNA polymerase I complex to the nucleolus that is independent of UBF. 9 38
19527688 2009
83
Detection of a novel silent deletion, a missense mutation and a nonsense mutation in TCOF1. 9 38
19067896 2008
84
Prevention of the neurocristopathy Treacher Collins syndrome through inhibition of p53 function. 9 38
18246078 2008
85
[Treacher-Collins syndrome: clinical and genetic aspects apropos of 4 cases of which 1 is familial]. 9 38
18236814 2007
86
Mandibulofacial dysostosis in a patient with a de novo 2;17 translocation that disrupts the HOXD gene cluster. 9 38
17431905 2007
87
[Treacher Collins syndrome: case report and literature review]. 9 38
16981466 2006
88
Treacher Collins syndrome with a de Novo 5-bp deletion in the TCOF1 gene. 9 38
16801042 2006
89
Cloning and functional characterization of the Xenopus orthologue of the Treacher Collins syndrome (TCOF1) gene product. 9 38
16125876 2005
90
A functional SNP in the promoter region of TCOF1 is associated with reduced gene expression and YY1 DNA-protein interaction. 9 38
16102917 2005
91
TCOF1 mutation database: novel mutation in the alternatively spliced exon 6A and update in mutation nomenclature. 4
15832313 2005
92
Congenital mandibular hypoplasia: analysis and classification. 4
15750428 2005
93
[Analysis of TCOF1 gene of eight Japanese patients with Treacher Collins syndrome]. 9 38
14531285 2003
94
A new sequence motif linking lissencephaly, Treacher Collins and oral-facial-digital type 1 syndromes, microtubule dynamics and cell migration. 4
11734546 2001
95
Canine TCOF1; cloning, chromosome assignment and genetic analysis in dogs with different head types. 9 38
11471057 2001
96
Mouse TCOF1 is expressed widely, has motifs conserved in nucleolar phosphoproteins, and maps to chromosome 18. 9 38
9299440 1997
97
Genomic organization of the human heparan sulfate-N-deacetylase/N-sulfotransferase gene: exclusion from a causative role in the pathogenesis of Treacher Collins syndrome. 9 38
8838814 1996
98
Transcriptional map of the Treacher Collins candidate gene region. 9 38
8681136 1996
99
A combined genetic and radiation hybrid map surrounding the Treacher Collins syndrome locus on chromosome 5q. 9 38
8281138 1993
100
Genetic and physical mapping of the Treacher Collins syndrome locus with respect to loci in the chromosome 5q3 region. 9 38
8276417 1993
101
Dams TuLip-i™ is a useful device for performing fiberscopy-guided orotracheal intubation in a patient with Treacher Collins syndrome. 38
30684921 2019
102
Comprehensive analysis of syndromic hearing loss patients in Japan. 38
31427586 2019
103
TCOF1 pathogenic variants identified by Whole-exome sequencing in Chinese Treacher Collins syndrome families and hearing rehabilitation effect. 38
31307516 2019
104
Autosomal recessive Treacher Collins syndrome due to POLR1C mutations: Report of a new family and review of the literature. 38
30957429 2019
105
Urgent Complex Intraoperative Reintubation in a Known Difficult Airway After Endotracheal Tube Damage: A Case Report. 38
30663995 2019
106
Visual diagnosis in utero: Prenatal diagnosis of Treacher-Collins syndrome using a 3D/4D ultrasonography. 38
31307753 2019
107
Genotype-phenotype variability in Chinese cases of Treacher Collins syndrome. 38
31107123 2019
108
[Pathogenic genes and clinical therapeutic strategies for Treacher Collins syndrome]. 38
31218872 2019
109
Correlation Between Mandible and External Ear in Patients with Treacher-Collins Syndrome. 38
31166254 2019
110
Proteasomal inhibition attenuates craniofacial malformations in a zebrafish model of Treacher Collins Syndrome. 38
30849304 2019
111
Bilateral Parotid Gland Agenesis in Treacher Collins Syndrome: A Case Report. 38
30961377 2019
112
Difficult airway management in a patient with Treacher Collins syndrome using two-part surgery. 38
30661728 2019
113
Treacher Collins Syndrome. 38
30851751 2019
114
Rare ribosomopathies: insights into mechanisms of cancer. 38
30670820 2019
115
Imaging Findings in Syndromes with Temporal Bone Abnormalities. 38
30466636 2019
116
A Novel Human Pluripotent Stem Cell-Derived Neural Crest Model of Treacher Collins Syndrome Shows Defects in Cell Death and Migration. 38
30375284 2019
117
Endotracheal Intubation Complicated by a Palatal Tooth in a Patient With Treacher Collins Syndrome. 38
30883232 2019
118
Preferential Associated Malformation in Patients With Anotia and Microtia. 38
30616309 2019
119
Assessment of Bioabsorbable Hydroxyapatite for Cranial Defect in Children. 38
30444784 2019
120
Does an ear deformity bring an adverse impact on quality of life of Treacher Collins syndrome individuals? 38
30540014 2018
121
Computer-Assisted Bilateral Orbitozygomatic Reconstruction in a Patient With Treacher Collins Syndrome Using Bicortical Calvarial Graft. 38
30027212 2018
122
[Analysis of TCOF1 mutation in a Chinese patient with Treacher-Collins syndrome]. 38
30298495 2018
123
Normative Data of the Interorbital Distance in Thai Population. 38
30234716 2018
124
Identification of a novel TCOF1 mutation in a Chinese family with Treacher Collins syndrome. 38
30186496 2018
125
Treacher Collins Syndrome and Tracheostomy: Decannulation Using Mandibular Distraction Osteogenesis. 38
29905603 2018
126
Patient-Reported Quality of Life in the Highest Functioning Patients With Treacher Collins Syndrome. 38
29570515 2018
127
The Use of Virtual Surgical Planning in Total Facial Skeletal Reconstruction of Treacher Collins Syndrome: A Case Report. 38
30087754 2018
128
Discussion: Counterclockwise Craniofacial Distraction Osteogenesis for Tracheostomy-Dependent Children with Treacher Collins Syndrome. 38
30045181 2018
129
Counterclockwise Craniofacial Distraction Osteogenesis for Tracheostomy-Dependent Children with Treacher Collins Syndrome. 38
29870506 2018
130
Contouring of zygomatic soft tissue using bilateral free groin flaps in a Treacher Collins syndrome patient. 38
29716177 2018
131
Active Transcutaneous Bone Conduction Implant: Middle Fossa Placement Technique in Children With Bilateral Microtia and External Auditory Canal Atresia. 38
29664868 2018
132
Decannulation and Airway Outcomes With Maxillomandibular Distraction in Treacher Collins and Nager Syndrome. 38
29381611 2018
133
Treacher Collins syndrome 3 (TCS3)-associated POLR1C mutants are localized in the lysosome and inhibits chondrogenic differentiation. 38
29567474 2018
134
Mutation screening of Chinese Treacher Collins syndrome patients identified novel TCOF1 mutations. 38
29230583 2018
135
Syndromic Hearing Loss: A Brief Review of Common Presentations and Genetics. 38
29441214 2018
136
Orbital volume and shape in Treacher Collins syndrome. 38
29275073 2018
137
Restoration of polr1c in Early Embryogenesis Rescues the Type 3 Treacher Collins Syndrome Facial Malformation Phenotype in Zebrafish. 38
29128566 2018
138
Congenital Abnormalities of the Temporomandibular Joint. 38
29153239 2018
139
[Difficult fiberoptic tracheal intubation in 1 month-old infant with Treacher Collins Syndrome]. 38
27692368 2018
140
Quantum Language of MicroRNA: Application for New Cancer Therapeutic Targets. 38
29435930 2018
141
Cephalometric Predictors of Clinical Severity in Treacher Collins Syndrome. 38
28820843 2017
142
Treacher Collins syndrome mutations in Saccharomyces cerevisiae destabilize RNA polymerase I and III complex integrity. 38
28973381 2017
143
A novel approach using long-read sequencing and ddPCR to investigate gonadal mosaicism and estimate recurrence risk in two families with developmental disorders. 38
28921562 2017
144
Combining Virtual Surgical Planning, Intraoperative Navigation, and 3-Dimensional Printing in Prosthetic-Based Bilateral Microtia Reconstruction. 38
28137637 2017
145
Whole-exome sequencing identified a variant in EFTUD2 gene in establishing a genetic diagnosis. 38
28643921 2017
146
Rare syndromes of the head and face: mandibulofacial and acrofacial dysostoses. 38
28186364 2017
147
Laser-capture micro dissection combined with next-generation sequencing analysis of cell type-specific deafness gene expression in the mouse cochlea. 38
28263850 2017
148
A Morphological Classification Scheme for the Mandibular Hypoplasia in Treacher Collins Syndrome. 38
28468148 2017
149
[Clinical diagnosis of Treacher Collins syndrome and the efficacy of using BAHA]. 38
29871318 2017
150
The airway approach to a neonate with Treacher Collins syndrome - Case report. 38
28094032 2017
151
Bilateral Malar Reconstruction Using Patient-Specific Polyether Ether Ketone Implants in Treacher-Collins Syndrome Patients With Absent Zygomas. 38
28045828 2017
152
[Growth of maxillo-facial region and related anomalies.] 38
28947685 2017
153
Transcriptome Profiling Identifies Ribosome Biogenesis as a Target of Alcohol Teratogenicity and Vulnerability during Early Embryogenesis. 38
28046103 2017
154
Management of obstructive sleep apnea in a Treacher Collins syndrome patient using distraction osteogenesis of the mandible. 38
28053912 2016
155
Treacher Collins syndrome: New insights from animal models. 38
27777025 2016
156
Combined soft and skeletal tissue modelling of normal and dysmorphic midface postnatal development. 38
27720275 2016
157
Treacher Collins syndrome: A case report and review of ophthalmic features. 38
29018745 2016
158
Cnbp ameliorates Treacher Collins Syndrome craniofacial anomalies through a pathway that involves redox-responsive genes. 38
27711076 2016
159
Long-Term Surgical and Speech Outcomes Following Palatoplasty in Patients With Treacher-Collins Syndrome. 38
27607112 2016
160
Genetic Factors in Selected Complex Congenital Malformations with Cleft Defect. 38
28028964 2016
161
Mutational Analysis of TCOF1, GSC, and HOXA2 in Patients With Treacher Collins Syndrome. 38
27526242 2016
162
Tcof1-Related Molecular Networks in Treacher Collins Syndrome. 38
27300466 2016
163
Face off against ROS: Tcof1/Treacle safeguards neuroepithelial cells and progenitor neural crest cells from oxidative stress during craniofacial development. 38
27481486 2016
164
Reply: Treacher Collins Syndrome: A Systematic Review of Evidence-Based Treatment and Recommendations. 38
27070214 2016
165
Treacher Collins Syndrome: A Systematic Review of Evidence-Based Treatment and Recommendations. 38
27070215 2016
166
Speech language pathology findings in a Treacher Collins syndrome patient. 38
27488991 2016
167
A quantitative method for defining high-arched palate using the Tcof1(+/-) mutant mouse as a model. 38
26772999 2016
168
Pathogenesis of POLR1C-dependent Type 3 Treacher Collins Syndrome revealed by a zebrafish model. 38
26972049 2016
169
The Craniofacial and Upper Limb Management of Nager Syndrome. 38
27171953 2016
170
Reconstruction of low hairline microtia of Treacher Collins syndrome with a hinged mastoid fascial flap. 38
26744099 2016
171
Ear malformations, hearing loss and hearing rehabilitation in children with Treacher Collins syndrome. 38
26025357 2016
172
Malar Reconstruction Using Y-V Advancement Flaps after Tissue Expansion in Treacher Collins Syndrome. 38
27579239 2016
173
Clinical, cytogenetic, and molecular outcomes in a series of 66 patients with Pierre Robin sequence and literature review: 22q11.2 deletion is less common than other chromosomal anomalies. 38
26756138 2016
174
Study of Genial Tubercles of Craniofacial Anomalies Individuals on Cone Beam Computed Tomography Scans. 38
26890459 2016
175
Long-term orthognathic surgical outcomes in Treacher Collins patients. 38
26638831 2016
176
Airway management in a child with Treacher Collins syndrome using C-MAC videolaryngoscope. 38
26589298 2016
177
[The research progress of Treacher Collins syndrome]. 38
27373049 2016
178
Prevention of Treacher Collins syndrome craniofacial anomalies in mouse models via maternal antioxidant supplementation. 38
26792133 2016
179
Treacher Collins Syndrome: A Systematic Review of Evidence-Based Treatment and Recommendations. 38
26710023 2016
180
Evaluation of Interforaminal Mandible Region of Individuals With Pierre Robin Sequence and Treacher Collins Syndrome Through the Cone-Beam Computed Tomography. 38
26674888 2016
181
[Hearing rehabilitation in Treacher Collins Syndrome with bone anchored hearing aid]. 38
26298651 2015
182
Congenital Auricular Malformations: Description of Anomalies and Syndromes. 38
26667631 2015
183
Cell-fate determination by ubiquitin-dependent regulation of translation. 38
26399832 2015
184
Perioperative management of 19 infants undergoing glossopexy (tongue-lip adhesion) procedure: a retrospective study. 38
25973908 2015
185
CORRIGENDUM: Treacher Collins syndrome: a clinical and molecular study based on a large series of patients. 38
26240980 2015
186
Erratum to: Living with orofacial conditions: psychological distress and quality of life in adults affected with Treacher Collins syndrome, cherubism, or oligodontia/ectodermal dysplasia--a comparative study. 38
25480422 2015
187
Recessive mutations in POLR1C cause a leukodystrophy by impairing biogenesis of RNA polymerase III. 38
26151409 2015
188
Early Fat Grafting for Augmentation of Orbitozygomatic Region in Treacher Collins Syndrome. 38
26080169 2015
189
Nasal sequelae of Treacher Collins syndrome. 38
25862218 2015
190
Reduced three-dimensional nasal airway volume in treacher collins syndrome and its association with craniofacial morphology. 38
25919271 2015
191
[Reply to the letter on the article «Comment to the article: "Unintended intraoperative extubation in a patient with Treacher Collins syndrome: Usefullness of GlideScope videolaryngoscope"»]. 38
25530432 2015
192
[Comment to the article: "Unintended intraoperative extubation in a patient with Treacher Collins syndrome: Usefullness of Glidescope videolaryngoscope"]. 38
25530430 2015
193
Orbital soft tissue surgery for patients with Treacher-Collins or Nager syndrome. A new surgical approach with early correction of soft tissue: prospective study. 38
25799958 2015
194
Living with orofacial conditions: psychological distress and quality of life in adults affected with Treacher Collins syndrome, cherubism, or oligodontia/ectodermal dysplasia-a comparative study. 38
25344415 2015
195
Prevalence of selected congenital anomalies in Saudi children: a community-based study. 38
26336015 2015
196
Surgical management of congenital deformities with temporomandibular joint malformation. 38
25483449 2015
197
Reduced three-dimensional airway volume is a function of skeletal dysmorphology in Treacher Collins syndrome. 38
25626822 2015
198
Neonatal mandibular distraction in a patient with Treacher Collins syndrome. 38
25569412 2015
199
Cleft Lip and/or Palate and Auricular Malformations. 38
24437583 2015
200
Whole exome sequencing identifies a POLRID mutation segregating in a father and two daughters with findings of Klippel-Feil and Treacher Collins syndromes. 38
25348728 2015
201
[Juvenile paradental cysts in children after mandible distraction: case-control study and clinical cases presentation]. 38
27002701 2015
202
Review of accessory tragus with highlights of its associated syndromes. 38
25266223 2014
203
Easy airway management using the i-gel™ supraglottic airway in a patient with Treacher Collins syndrome. 38
25598889 2014
204
Treacher Collins syndrome TCOF1 protein cooperates with NBS1 in the DNA damage response. 38
25512513 2014
205
Surgical treatment of scoliosis in Treacher Collins syndrome: a case report. 38
25524572 2014
206
Prosthetic Rehabilitation of a Patient with Congenitally Deformed Ears. 38
26199528 2014
207
A novel silent deletion, an insertion mutation and a nonsense mutation in the TCOF1 gene found in two Chinese cases of Treacher Collins syndrome. 38
24994558 2014
208
Treacher Collins syndrome: a case study. 38
25439217 2014
209
Mandibulofacial dysostosis (Treacher Collins syndrome): A case report and review of literature. 38
25395774 2014
210
[Unintended intraoperative extubation in a patient with Treacher Collins syndrome: usefullness of GlideScope(®) videolaryngoscope]. 38
24439524 2014
211
Usefulness of videofluoroscopic swallow study in treacher collins syndrome with cleft palate: a case report. 38
25379503 2014
212
Internal mandibular distraction to relieve airway obstruction in children with severe micrognathia. 38
25052572 2014
213
Diamond-Blackfan anemia with mandibulofacial dystostosis is heterogeneous, including the novel DBA genes TSR2 and RPS28. 38
24942156 2014
214
The neural crest: a versatile organ system. 38
25227568 2014
215
The surgical management of Treacher Collins syndrome. 38
24776174 2014
216
The NBS1-Treacle complex controls ribosomal RNA transcription in response to DNA damage. 38
25064736 2014
217
Cranial neural crest: migratory cell behavior and regulatory networks. 38
24680987 2014
218
Changing the facial features of patients with Treacher Collins syndrome: protocol for 3-stage treatment of hard and soft tissue hypoplasia in the upper half of the face. 38
23511742 2014
219
Successful intubation using McGRATH MAC in a patient with Treacher Collins syndrome. 38
25137871 2014
220
Treacher Collins Syndrome: the genetics of a craniofacial disease. 38
24690222 2014
221
Ex utero intrapartum treatment of fetal micrognathia. 38
24902142 2014
222
Two cases of the "cannot ventilate, cannot intubate" scenario in children in view of recent recommendations. 38
24858967 2014
223
Mutation of a Nopp140 gene dao-5 alters rDNA transcription and increases germ cell apoptosis in C. elegans. 38
24722283 2014
224
Associations between speech features and phenotypic severity in Treacher Collins syndrome. 38
24775909 2014
225
The effectiveness of mandibular distraction in improving airway obstruction in the pediatric population. 38
24572880 2014
226
[Neonatal osteogenic mandibular distraction in patient diagnosed with Treacher Collins syndrome]. 38
24071556 2014
227
Cholesteatoma of the hypotympanum in a patient with Treacher Collins syndrome. 38
23860365 2014
228
Treacher Collins syndrome with multiple congenital heart defects after paroxetine exposure: case report. 38
24783649 2014
229
Tissue specific roles for the ribosome biogenesis factor Wdr43 in zebrafish development. 38
24497835 2014
230
[Fiberoptic tracheal intubation through a laryngeal mask airway in a pediatric patient with treacher collins syndrome]. 38
24498771 2013
231
Treacher Collins syndrome with microcornea and retinal detachment. 38
24336587 2013
232
A case of treacher collins syndrome. 38
24778568 2013
233
Is there an effect of obstructive sleep apnea syndrome on oxidative stress and inflammatory parameters in patients with craniofacial anomalies? 38
24220372 2013
234
Planning surgical reconstruction in Treacher-Collins syndrome using virtual simulation. 38
24165631 2013
235
Association between obstructive sleep apnea and health-related quality of life in individuals affected with Treacher Collins syndrome. 38
23455582 2013
236
Computer-assisted midface reconstruction in Treacher Collins syndrome part 1: skeletal reconstruction. 38
23454266 2013
237
Computer-assisted midface reconstruction in Treacher Collins syndrome part 2: soft tissue reconstruction. 38
23465636 2013
238
Declining vision: saved by a tracheostomy. 38
24099764 2013
239
Screw implantation in the globe: the risk of delayed hardware migration from craniofacial repair. 38
24036744 2013
240
A novel mutation in the TCOF1 gene found in two Chinese cases of Treacher Collins syndrome. 38
23838542 2013
241
Long-term assessment of facial features and functions needing more attention in treatment of Treacher Collins syndrome. 38
23615184 2013
242
Craniofacial disorders that have phenotypic overlap with Treacher Collins syndrome. 38
23664577 2013
243
Treacher Collins syndrome: sinus of Valsalva aneurysm. 38
23836833 2013
244
Craniofacial development: current concepts in the molecular basis of Treacher Collins syndrome. 38
23036831 2013
245
Cephalometric assessment of craniofacial morphology in patients with treacher Collins syndrome. 38
23851757 2013
246
A classification system to guide orbitozygomatic reconstruction in Treacher-Collins syndrome. 38
23481581 2013
247
Outcome of anesthetic management for children with craniofacial deformities. 38
23461698 2013
248
Treacher Collins syndrome: a case report. 38
23709540 2013
249
Orofacial functions and oral health associated with Treacher Collins syndrome. 38
22783882 2013
250
Results of the implantation of bone-anchored hearing aids in patients with treacher-collins syndrome. 38
25992018 2013
251
Re: Craniofacial development: current concepts in the molecular basis of Treacher Collins syndrome. 38
23273823 2013
252
Phenotype variation in Treacher Collins Syndrome: from missense to splice site mutations. 38
23352328 2013
253
Anesthetic implications of infants with mandibular hypoplasia treated with mandibular distraction osteogenesis. 38
23043528 2013
254
Two extraordinarily severe cases of Treacher Collins syndrome. 38
23401420 2013
255
Psychological and social factors in undergoing reconstructive surgery among individuals with craniofacial conditions: an exploratory study. 38
22315960 2013
256
Nucleolar stress in Drosophila melanogaster: RNAi-mediated depletion of Nopp140. 38
23412656 2013
257
A range of condylar hypoplasia exists in Treacher Collins syndrome. 38
22766383 2013
258
A range of malar and masseteric hypoplasia exists in Treacher Collins syndrome. 38
22917695 2013
259
Novel application of human morphomics to quantify temporal soft tissues in Pierre Robin and Treacher Collins. 38
23348276 2013
260
Directed differentiation of human pluripotent cells to neural crest stem cells. 38
23288320 2013
261
Application of the Vibrant Soundbridge middle-ear implant for aural atresia in patients with Treacher Collins syndrome. 38
23168240 2012
262
Treacher Collins syndrome: clinical implications for the paediatrician--a new mutation in a severely affected newborn and comparison with three further patients with the same mutation, and review of the literature. 38
22729243 2012
263
Pierre Robin sequence and Treacher Collins hypoplastic mandible comparison using three-dimensional morphometric analysis. 38
23154353 2012
264
Optimizing the timing and technique of Treacher Collins orbital malar reconstruction. 38
23154378 2012
265
[Epidemiology of orofacial clefts (1995-2006) in France (Congenital Malformations of Alsace Registry)]. 38
22925539 2012
266
The role of bronchoscopy in the management of patients with severe craniofacial syndromes. 38
22901909 2012
267
Anesthesia for Treacher Collins syndrome: a review of airway management in 240 pediatric cases. 38
22394325 2012
268
Novel insertion in exon 5 of the TCOF1 gene in twin sisters with Treacher Collins syndrome. 38
22415350 2012
269
Eight year follow-up dental treatment in a patient with Treacher Collins syndrome. 38
23263431 2012
270
Attitudes toward prenatal genetic testing for Treacher Collins syndrome among affected individuals and families. 38
22628272 2012
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Management of obstructive sleep apnea in pediatric craniofacial anomalies. 38
23483041 2012
272
Autologous fat transplantation in the craniofacial patient: the UCLA experience. 38
22777454 2012
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Salivary gland pathology as a new finding in Treacher Collins syndrome. 38
22585367 2012
274
Obstructive sleep apnoea in Treacher Collins syndrome: prevalence, severity and cause. 38
22521672 2012
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Use of the TruView EVO2 laryngoscope in Treacher Collins syndrome after unplanned extubation. 38
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[Clinical and genetic analysis of a patient with Treacher Collins syndrome in TCOF1 gene]. 38
22870720 2012
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Cervical spine in Treacher Collins syndrome. 38
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Treacher collins syndrome. 38
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Neural crest migration: interplay between chemorepellents, chemoattractants, contact inhibition, epithelial-mesenchymal transition, and collective cell migration. 38
23801492 2012
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Screening for obstructive sleep apnea in Treacher-Collins syndrome. 38
22374652 2012
281
Mandibular volumetric comparison of treacher collins syndrome and hemifacial microsomia. 38
22456406 2012
282
An analysis of mandibular volume in treacher collins syndrome. 38
22456407 2012
283
The potential of adipose-derived stem cells in craniofacial repair and regeneration. 38
22457180 2012
284
Improved facial outcome assessment using a 3D anthropometric mask. 38
22103995 2012
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Haploinsufficiency of a spliceosomal GTPase encoded by EFTUD2 causes mandibulofacial dysostosis with microcephaly. 38
22305528 2012
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Obstructive sleep apnea in Treacher Collins syndrome. 38
21626120 2012
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Multidisciplinary treatment approach in Treacher Collins syndrome. 38
22449504 2012
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Mild form of treacher collins syndrome imitating juvenile otosclerosis. 38
22953143 2012
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Fishing the molecular bases of Treacher Collins syndrome. 38
22295061 2012
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Treacher Collins syndrome: a case review. 38
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Challenges in evaluation, management and outcome of the patients with Treacher Collins Syndrome. 38
22423421 2011
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Aplasia of the anterior arch of atlas associated with multiple congenital disorders: case report. 38
21712741 2011
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Interim obturator in an infant with Treacher Collins syndrome: Review and chairside modification in impression making. 38
22346164 2011
294
Clinical spectrum of Treacher Collins syndrome. 38
25756016 2011
295
Occurrence of complete arhinia in two siblings with a clinical picture of Treacher Collins syndrome negative for TCOF1, POLR1D and POLR1C mutations. 38
21772136 2011
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Bone-anchored hearing aid (Baha) in patients with Treacher Collins syndrome: tips and pitfalls. 38
21839526 2011
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Marathon of eponyms: 20 Treacher Collins syndrome. 38
21781229 2011
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Novel mutations of TCOF1 gene in European patients with Treacher Collins syndrome. 38
21951868 2011
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Treacher Collins Syndrome: A Case Report and a Brief Review on Diagnostic Aids. 38
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Treacher Collins syndrome. 38
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Franceschetti syndrome. 38
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Prenatal evaluation of the middle ear and diagnosis of middle ear hypoplasia using MRI. 38
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Exploring the genetic origins of Treacher Collins syndrome. 38
21261602 2011
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[Mandibular distraction osteogenesis in patients with craniofacial malformation]. 38
22097658 2011
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The role of p53 in ribosomopathies. 38
21435506 2011
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Retrograde fiberoptic technique to avoid tracheostomy in a patient with a tracheocutaneous fistula and Treacher Collins syndrome. 38
21233744 2011
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Relation of the mandibular body and ramus in Treacher Collins syndrome. 38
21239924 2011
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Cytogenetic and clinical assessment of a family with treacher collins syndrome. 38
21765846 2011
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Anesthetic challenges and difficulties in the management of Treacher Collins syndrome. 38
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Craniofacial birth defects: The role of neural crest cells in the etiology and pathogenesis of Treacher Collins syndrome and the potential for prevention. 38
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Orthognathic surgery in patients with craniofacial syndrome. I. A 5-year overview of combined orthodontic and surgical correction. 38
21446806 2010
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[Comment on the article "Use of a metal guide in the working channel of a fiberoptic scope to insert a tracheal tube in an infant with Treacher Collins syndrome and choanal atresia"]. 38
21033462 2010
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Bilateral orbitozygomatic reconstruction with tissue-engineered bone. 38
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Mandibular distraction osteogenesis for pediatric airway management. 38
20417010 2010
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SILAC analysis of oxidative stress-mediated proteins in human pneumocytes: new role for treacle. 9
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CAD/CAM bilateral ear prostheses construction for Treacher Collins syndrome patients using laser scanning and rapid prototyping. 38
19844817 2010
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Ribosomopathies: human disorders of ribosome dysfunction. 38
20194897 2010
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[Use of a metal guide in the working channel of a fiberoptic scope to insert a tracheal tube in an infant with Treacher Collins syndrome and choanal atresia]. 38
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The role of nasal CPAP in obstructive sleep apnoea syndrome due to mandibular hypoplasia. 38
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Airway management in a patient with Treacher Collins syndrome: A case report. 38
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Successful intubation using a simple fiberoptic assisted laryngoscope for Treacher Collins syndrome. 38
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Tracheal intubation using pediatric Airtraq optical laryngoscope in a patient with Treacher Collins syndrome. 38
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Staged reconstruction for adult complete Treacher Collins syndrome. 38
19816274 2009
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Clinical experience with the application of distraction osteogenesis for airway obstruction. 38
19816357 2009
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Curvilinear mandibular distraction in a patient with mandibulofacial dysostosis associated with Diamond-Blackfan anemia. 38
19816270 2009
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Mandibular deformities: single-vector distraction techniques for a multivector problem. 38
19816280 2009
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Syndromes of the first and second pharyngeal arches: A review. 38
19610085 2009
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Treacher-collins syndrome-a challenge for anaesthesiologists. 38
20640217 2009
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Orofacial features of Treacher Collins syndrome. 38
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Airtraq laryngoscope for intubation in Treacher Collins syndrome. 38
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Use of GlideScope Ranger in the management of a child with Treacher Collins syndrome in a developing world setting. 38
19638114 2009
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Microcephaly, microtia, preauricular tags, choanal atresia and developmental delay in three unrelated patients: a mandibulofacial dysostosis distinct from Treacher Collins syndrome. 38
19334086 2009
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Clinical application of curvilinear distraction osteogenesis for correction of mandibular deformities. 38
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Perioperative airway management in a child with Treacher Collins syndrome. 38
19318301 2009
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Composite tissue allotransplantation for the reconstruction of congenital craniofacial defects. 38
19328918 2009
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[The change of difficulty in intubation as growth in patients with Treacher-Collins syndrome and Pierre-Robin syndrome]. 38
19227168 2009
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"Bochdalek" skull (syngnathia): CT examination. 38
20196476 2009
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External distraction osteogenesis in the pediatric mandible. 38
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[A case with Treacher-Collins syndrome]. 38
19134260 2008
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Regulation of the mouse Treacher Collins syndrome homolog (Tcof1) promoter through differential repression of constitutive expression. 38
18771418 2008
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Dexmedetomidine and ketamine for fiberoptic intubation in a child with severe mandibular hypoplasia. 38
18929288 2008
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Tessier no. 7 cleft: a new subclassification and management protocol. 38
18766056 2008
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Genital anomalies in a patient with Treacher Collins syndrome. 38
18627048 2008
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A review of physical, behavioral, and oral characteristics associated with Treacher Collins syndrome, Goldenhar syndrome, and Angelman syndrome. 38
18683396 2008
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Microsurgical correction of facial contour deformities in patients with craniofacial malformations: a 15-year experience. 38
18520863 2008
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Inadvertent intracranial insertion of a soft rubber tube in a patient with Treacher-Collins syndrome: case report and review of literature. 38
18188571 2008
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Evaluation of molar teeth and buds in patients submitted to mandible distraction: long-term results. 38
18349653 2008
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Fully implantable hearing device as a new treatment of conductive hearing loss in Franceschetti syndrome. 38
18261808 2008
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A cephalometric analysis of maxillary and mandibular parameters in Treacher Collins syndrome. 38
18317089 2008
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Auriculo-condylar syndrome: mapping of a first locus and evidence for genetic heterogeneity. 38
18000524 2008
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Five year follow-up of mandibular distraction osteogenesis on the dentofacial structures of syndromic children. 38
18199081 2008
352
Rare craniofacial clefts: a surgical classification. 38
18216674 2008
353
Predictive factors for success after transnasal endoscopic treatment of choanal atresia. 38
18209138 2008
354
Awake tracheal intubation through the laryngeal mask in neonates with upper airway obstruction. 38
18095971 2008
355
Orotracheal intubation with an AirWay Scope in a patient with Treacher Collins syndrome. 38
18500620 2008
356
Orthodontic treatment for a patient with Treacher-Collins syndrome: a case report. 38
19641756 2008
357
Incudomalleal joint formation: the roles of apoptosis, migration and downregulation. 38
18053235 2007
358
Radiological findings and dynamic aspects of stomatognathic structures in Treacher Collins syndrome: clinical case report. 38
18177190 2007
359
Effect of mandibular distraction osteogenesis on developing molars. 38
17973686 2007
360
Mutations and new polymorphic changes in the TCOF1 gene of patients with oculo-auriculo-vertebral spectrum and Treacher-Collins syndrome. 38
17786119 2007
361
The use of three-dimensional computed tomography images for anticipated difficult intubation airway evaluation of a patient with Treacher Collins syndrome. 38
17717215 2007
362
The Laryngeal Mask Airway for exchange of a nasal for an orotracheal tube in a patient with Treacher Collins syndrome. 38
17967679 2007
363
[Frontofacial monobloc advancement using the Rigid External Distraction (RED-II) system]. 38
17695776 2007
364
Airway management in a patient with Treacher Collins syndrome requiring emergent cesarean section. 38
17579009 2007
365
Marriage of hard and soft tissues of the face revisited: when distraction meets microsurgery. 38
17589250 2007
366
Treacher-collins syndrome and associated abnormalities. A case report. 38
24299683 2007
367
Esophageal atresia, hypoplasia of zygomatic complex, microcephaly, cup-shaped ears, congenital heart defect, and mental retardation--new MCA/MR syndrome in two affected sibs and a mildly affected mother? 9
17497718 2007
368
Clinical and imaging correlations of Treacher Collins syndrome: report of two cases. 38
17531943 2007
369
[One pedigree report of Treacher Collins syndrome]. 38
17702427 2007
370
RNAi knockdown of Nopp140 induces Minute-like phenotypes in Drosophila. 38
17392509 2007
371
Computer-aided surgical treatment of bilateral choanal atresia. 38
17538334 2007
372
Cleft palate, bilateral external auditory canal atresia, and other midline defects associated with Diamond-Blackfan anemia: case report. 38
17483715 2007
373
Treacher Collins syndrome. 38
17552945 2007
374
Vitreous phenotype: a key diagnostic sign in Stickler syndrome types 1 and 2 complicated by double heterozygosity. 38
17318849 2007
375
Laryngeal mask for airway management in Treacher-Collins syndrome. 38
17585582 2007
376
[Report of a case with Treacher Collins syndrome]. 38
17349148 2007
377
New grading system for patients with treacher Collins syndrome. 38
17251848 2007
378
Microtia, severe micrognathia and absent ossicles: auriculo-condylar syndrome or new entity? 38
17159508 2007
379
Fiberoptic tracheal intubation through a classicial laryngeal mask airway under spontaneous ventilation in a child with Treacher Collins syndrome. 38
17233367 2006
380
Tcof1/Treacle is required for neural crest cell formation and proliferation deficiencies that cause craniofacial abnormalities. 38
16938878 2006
381
Nager acrofacial dysostosis: an unusual association with both upper and lower eyelid colobomas. 38
16877861 2006
382
A soft-tissue approach to midfacial hypoplasia associated with Treacher Collins syndrome. 38
16641628 2006
383
Invited discussion: Surgical treatment of Treacher Collins syndrome. 38
16641635 2006
384
Treacher-Collins syndrome. 38
16883758 2006
385
Prosthetic management of a patient with Treacher Collins syndrome. 38
17051873 2006
386
Oral health status of children with treacher Collins syndrome. 38
16681242 2006
387
Accidental choking in a patient with Treacher Collins syndrome. 38
16084601 2006
388
Mandibular distraction osteogenesis with a small semiburied device in neonates: report of 2 cases. 38
16579198 2006
389
Reduced TCOF1 mRNA level in a rhesus macaque with Treacher Collins-like syndrome: further evidence for haploinsufficiency of treacle as the cause of disease. 38
16465596 2006
390
[Analysis of the complications following mandibular distraction using internal distractors]. 38
16573158 2006
391
Introduction to genetics for otorhinolaryngology nurses. 38
16696290 2006
392
Craniofacial anomalies: from development to molecular pathogenesis. 38
16305494 2005
393
Vestibular-evoked myogenic potentials in infancy and early childhood. 38
16094120 2005
394
[The management of the difficult pediatric airway]. 38
15915746 2005
395
Treacher Collins Syndrome with choanal atresia: a case report and review of disease features. 38
16446903 2005
396
New hope for Treacher-Collins syndrome: a surgical case report. 38
16525988 2005
397
The change of difficult intubation with growth in a patient with treacher Collins syndrome. 38
15562098 2004
398
Genomewide analysis of gene expression associated with Tcof1 in mouse neuroblastoma. 38
15522210 2004
399
Treacher Collins syndrome: comprehensive evaluation and treatment. 38
18088751 2004
400
The co-existence of Treacher Collins syndrome and Klinefelter syndrome. 38
15468422 2004
401
Treacher Collins syndrome with choanal atresia: one way to handle the airway. 38
15283837 2004
402
Bony overgrowth onto fixture component of a bone-anchored hearing aid. 38
15453943 2004
403
The Treacher Collins syndrome (TCOF1) gene product is involved in ribosomal DNA gene transcription by interacting with upstream binding factor. 38
15249688 2004
404
Facial nerve palsy: a complication following anaesthesia in a child with Treacher Collins syndrome. 38
15200660 2004
405
Adolescents' perspectives on living and growing up with Treacher Collins syndrome: a qualitative study. 38
15222792 2004
406
Vertical mesenchymal distraction and bilateral free fibula transfer for severe Treacher Collins syndrome. 38
15083022 2004
407
Genetic background has a major effect on the penetrance and severity of craniofacial defects in mice heterozygous for the gene encoding the nucleolar protein Treacle. 38
15042714 2004
408
The airway in patients with craniofacial abnormalities. 38
14717875 2004
409
Mandibular lengthening by distraction for airway obstruction in treacher-collins syndrome: the long-term results. 38
14704562 2004
410
Successes and failures with the laryngeal mask airway (LMA) in patients with Treacher Collins syndrome - a case series. 38
14617610 2003
411
Aplasia of zygomatic arch and dislocation of temporomandibular joint capsule in Treacher-Collins syndrome: three-dimensional reconstruction of computed tomographic scans. 38
14597369 2003
412
Fiberoptic tracheal intubation through a laryngeal mask airway in a child with Treacher Collins syndrome. 38
14570641 2003
413
[Effects of zygomatic arch resection in rat]. 38
14984671 2003
414
Effects of a child with a craniofacial anomaly on stability of the parental relationship. 38
14501333 2003
415
The prolonged use of the laryngeal mask airway in a neonate with airway obstruction and Treacher Collins syndrome. 38
12846711 2003
416
Ultrasonographic prenatal diagnosis of Treacher Collins syndrome: a case report. 38
12859108 2003
417
Increased fistula risk following palatoplasty in Treacher Collins syndrome. 38
12733957 2003
418
External auditory canal duplication anomalies associated with congenital aural atresia. 38
12590853 2003
419
Simple technique for tracheocutaneous fistula closure in the pediatric population. 38
12537053 2003
420
Craniofacial development: the tissue and molecular interactions that control development of the head. 38
12793205 2003
421
Common craniofacial anomalies: the facial dysostoses. 38
12447054 2002
422
Treacher Collins syndrome (mandibulofacial dysostosis). 38
12438872 2002
423
Transnasal endoscopic treatment of choanal atresia without prolonged stenting. 38
12162774 2002
424
Co-occurrence of Down syndrome and Treacher-Collins syndrome. 38
12139573 2002
425
Treacher Collins Syndrome : A Report on Two Cases. 38
27407399 2002
426
Novel autosomal dominant mandibulofacial dysostosis with ptosis: clinical description and exclusion of TCOF1. 38
12114479 2002
427
Anaesthetic implications of Nager syndrome. 38
11982847 2002
428
Long-term outcome study of bilateral mandibular distraction: a comparison of Treacher Collins and Nager syndromes to other types of micrognathia. 38
11994578 2002
429
Penile agenesis associated with Treacher Collins syndrome. 38
12108161 2002
430
Treacher Collins syndrome with novel ophthalmic findings and visceral anomalies. 38
11914220 2002
431
Prenatal three-dimensional sonographic images associated with Treacher Collins syndrome. 38
11952976 2002
432
Antenatal three-dimensional sonographic features of Treacher Collins syndrome. 38
11952977 2002
433
Further delineation of mandibulofacial dysostosis: Toriello type. 38
12002155 2002
434
Distraction osteogenesis of zygomatic bone grafts in a patient with Treacher Collins syndrome: a case report. 38
12000886 2002
435
[Oto-mandibular dysplasias: genetics and nomenclature of syndromes]. 38
11770450 2001
436
[Morphological alterations of oto-mandibular syndromes]. 38
11770456 2001
437
Mandibular distraction osteogenesis in very young patients to correct airway obstruction. 38
11496167 2001
438
[Do all patients with mandibular hypoplasia present difficulty in endotracheal intubation?]. 38
11345751 2001
439
Three-dimensional spiral CT of craniofacial malformations in children. 38
11149095 2000
440
Craniofacial abnormalities induced by retinoic acid: a preliminary histological and scanning electron microscopic (SEM) study. 38
11089896 2000
441
Treacher Collins syndrome with acute airway obstruction. 38
10960695 2000
442
Midface anomalies in children. 38
10903683 2000
443
Treacher Collins syndrome. 38
10868214 2000
444
Treacher Collins syndrome. 38
10544531 1999
445
[Syndromes 11. Treacher collins syndrome]. 38
11930479 1999
446
Mandibular growth after distraction in patients under 48 months of age. 38
10190432 1999
447
Management of difficult airways with a laryngeal mask airway under propofol anaesthesia. 38
10189660 1999
448
Genetic craniofacial aberrations. 38
10066116 1998
449
Skeletal expansion combined with soft-tissue reduction in the treatment of obstructive sleep apnea in children: physiologic results. 38
9807073 1998
450
Treacher Collins syndrome: from linkage to prenatal testing. 38
9850311 1998
451
Prenatal sonographic diagnosis of Treacher Collins syndrome. 38
9572194 1998
452
Congenital anomalies in the teratological collection of Museum Vrolik in Amsterdam, The Netherlands. I: Syndromes with multiple congenital anomalies. 38
9605284 1998
453
Autosomal-dominant branchio-otic (BO) syndrome is not allelic to the branchio-oto-renal (BOR) gene at 8q13. 38
9556298 1998
454
Multiple anomalies, hypokalaemic paralysis and partial symptomatic relief by terbutaline. 38
9628312 1998
455
Audiometric results of bilateral bone-anchored hearing aid application in patients with bilateral congenital aural atresia. 38
9546268 1998
456
Craniofacial abnormalities in sleep apnoea syndrome. 38
9666580 1998
457
Treacher-Collins syndrome and co-existing dermatomyositis. 38
9475567 1998
458
Use of the laryngeal mask airway to preoxygenate in a paediatric patient with Treacher-Collins syndrome. 38
9608980 1998
459
Mandibular reconstruction in children with obstructive sleep apnea due to micrognathia. 38
9326773 1997
460
A nager acrofacial dysostosis syndrome patient with severe respiratory distress syndrome (RDS). 38
12503193 1997
461
Submerged intraoral device for mandibular lengthening. 38
9234090 1997
462
A CT scan technique for quantitative volumetric assessment of the mandible after distraction osteogenesis. 38
9105350 1997
463
Variations in the correction of Treacher Collins syndrome. 38
9047182 1997
464
A new type of maxillofacial dysostosis, inherited as an X-linked or autosomal recessive trait. 38
9457496 1997
465
Human and murine PTX1/Ptx1 gene maps to the region for Treacher Collins syndrome. 38
9337397 1997
466
Reactive perforating collagenosis in Treacher Collins syndrome. 38
8959959 1996
467
Stapedectomy in the pediatric patient. 38
8914912 1996
468
Special imaging casebook. Treacher Collins syndrome. 38
8915945 1996
469
Respiratory arrest in Treacher-Collins syndrome: implications for dental management: case report. 38
8784917 1996
470
Facial asymmetries in hemifacial microsomia, Goldenhar syndrome, and Treacher Collins syndrome. 38
11873461 1996
471
Microsurgical correction of facial asymmetry in 60 consecutive cases. 38
8559818 1996
472
The Birmingham bone anchored hearing aid programme: paediatric experience and results. 38
9015445 1996
473
Speech and voice rehabilitation in selected patients fitted with a bone anchored hearing aid (BAHA). 38
9015449 1996
474
[Treacher Collins syndrome]. 38
9048025 1996
475
Repeated mandibular lengthening in Treacher Collins syndrome: a case report. 38
8636635 1995
476
Prenatal sonographic diagnosis of Treacher Collins syndrome: a case and review of the literature. 38
8579653 1995
477
Mandibulofacial dysostosis: CT findings of the temporal bones. 38
8654460 1995
478
The human and mouse receptors for hyaluronan-mediated motility, RHAMM, genes (HMMR) map to human chromosome 5q33.2-qter and mouse chromosome 11. 38
8595891 1995
479
Treacher Collins syndrome. 38
8558560 1995
480
TREACHER-COLLINS SYNDROME: A Case Report. 38
28769320 1995
481
Treacher Collins syndrome. 38
7582373 1995
482
Microtia grade as an indicator of middle ear development in aural atresia. 38
7619415 1995
483
Treacher Collins syndrome: early surgical treatment of orbitomalar malformations. 38
9020691 1995
484
The Treacher Collins syndrome. A clinical, radiological, and genetic linkage study on two pedigrees. 38
7727083 1995
485
Treacher Collins syndrome and difficult intubation. 38
7599908 1995
486
Case of the day. Treacher-Collins syndrome. 38
7602699 1995
487
Cloning of the human heparan sulfate-N-deacetylase/N-sulfotransferase gene from the Treacher Collins syndrome candidate region at 5q32-q33.1. 38
7601448 1995
488
Craniofacial development in rats with early resection of the zygomatic arch. 38
7870772 1995
489
Mandibulofacial dysostosis. Case report. 38
7710415 1995
490
Cranio-orbito-zygomatic measurements from standard CT scans in unoperated Treacher Collins syndrome patients: comparison with normal controls. 38
7727483 1995
491
Treacher-Collins syndrome. Management of major and minor anomalies of the ear. 38
7569369 1995
492
Orotracheal intubation through the laryngeal mask airway in paediatric patients with Treacher-Collins syndrome. 38
7489423 1995
493
Orotracheal intubation through the laryngeal mask airway in paediatric patients with Treacher-Collins syndrome. 38
7489482 1995
494
Ear surgery in Treacher Collins syndrome. 38
7832540 1995
495
Treacher Collins syndrome: otologic and auditory management. 38
7696682 1995
496
[Treacher-Collins syndrome: intubation difficulties]. 38
8745985 1995
497
Molecular genetic approaches to the study of human craniofacial dysmorphologies. 38
7721539 1995
498
Prenatal craniofacial development: new insights on normal and abnormal mechanisms. 38
8664424 1995
499
Prenatal craniofacial development: new insights on normal and abnormal mechanisms. 38
7632866 1995
500
Evidence of a locus for orofacial clefting on human chromosome 6p24 and STS content map of the region. 38
7711723 1995
501
Molecular biology experimental strategies for craniofacial-oral-dental dysmorphology. 38
7554921 1995
502
Treacher Collins syndrome (mandibulofacial dysostosis). 38
7813160 1994
503
Bone graft of the zygoma in a patient with Treacher-Collins Syndrome. 38
7833404 1994
504
A YAC contig encompassing the Treacher Collins syndrome critical region at 5q31.3-32. 38
8037214 1994
505
Inherited Treacher-Collins syndrome in twins after artificial insemination. 38
7918856 1994
506
Treacher Collins syndrome: correlation between clinical and genetic linkage studies. 38
8055143 1994
507
Recurrence of Treacher Collins' syndrome with sonographic findings. 38
8041477 1994
508
A procedure for the reconstruction of the lateral palpebral canthus. 38
8193077 1994
509
A YAC contig of approximately 3 Mb from human chromosome 5q31-->q33. 38
8188289 1994
510
Mandibular lengthening by distraction for airway obstruction in Treacher-Collins syndrome. 38
8031974 1994
511
Construction of a yeast artificial chromosome contig encompassing the human acidic fibroblast growth factor (FGF1) gene: toward the cloning of the ANLL/MDS tumor-suppressor gene. 38
7514571 1994
512
Nasotracheal intubation in a child with Treacher Collins syndrome using the Bullard intubating laryngoscope. 38
8123276 1993
513
Eustachian tube dysfunction and its sequelae in patients with cleft palate. 38
8235774 1993
514
Natural coral skeleton used as onlay graft for contour augmentation of the face. A preliminary report. 38
7902384 1993
515
Co-occurrence of schizophrenia and Treacher Collins syndrome. 38
8291570 1993
516
Reconstruction of composite facial defects: the combined application of multiple reconstructive modalities. 38
8221401 1993
517
Neurocranial morphology in mandibulofacial dysostosis (Treacher Collins syndrome). Figueroa et al., July 1993, Vol. 30, No. 4, 369-375. 38
8218318 1993
518
Imaging of ear deformities in Treacher Collins syndrome. 38
8877182 1993
519
Neurocranial morphology in mandibulofacial dysostosis (Treacher Collins syndrome). 38
8399264 1993
520
Diamond-Blackfan anemia associated with Treacher-Collins syndrome. 38
8217543 1993
521
A physical map of 15 loci on human chromosome 5q23-q33 by two-color fluorescence in situ hybridization. 38
8325647 1993
522
[The laryngeal mask versus intubation in difficult intubation conditions in the Franceschetti-Zwahlen-Klein syndrome (Treacher-Collins syndrome)]. 38
8318605 1993
523
Difficult laryngoscopy made easy with a "BURP". 38
8467551 1993
524
Ear malformation and hearing loss in patients with Treacher Collins syndrome. 38
8418881 1993
525
Mandibulofacial dysostosis (Treacher Collins syndrome): a case report. 38
1296999 1992
526
Use of the Augustine stylet anticipating difficult tracheal intubation in Treacher-Collins syndrome. 38
1389198 1992
527
Molteno implants in children. 38
18079648 1992
528
Ear deformities in mandibulofacial dysostosis. 38
1636410 1992
529
Anaesthetic management of Miller's syndrome. 38
1752007 1991
530
Congenital conductive or mixed deafness, preauricular sinus, external ear anomaly, and commissural lip pits: an autosomal dominant inherited syndrome. 38
1746829 1991
531
Anaesthesia for Treacher Collins syndrome using a laryngeal mask airway. 38
1752006 1991
532
Mandibulo-facial dysostosis--the eye signs of a case study. 38
1788588 1991
533
Animal models for human craniofacial malformations. 38
1812129 1991
534
Postaxial acrofacial dysostosis (Miller) syndrome: a new case. 38
1683410 1991
535
Craniofacial morphology in Treacher Collins syndrome. 38
2069981 1991
536
Prenatal ultrasonic diagnosis of mandibulofacial dysostosis (Treacher Collins syndrome). 38
1847948 1991
537
Sleep apnoea syndrome associated with maxillofacial abnormalities. 38
2013738 1991
538
Outcome of pregnancy in patients with systemic lupus erythematosus. A prospective study. 38
1992954 1991
539
Vascularized full-thickness parietal bone grafts in maxillofacial reconstruction: the role of the galea and superficial temporal vessels. 38
1989018 1991
540
Craniofacial anomalies in twins. 38
1984262 1991
541
[Orthomorphic facial treatment of patients with sequelae of bilateral lip-palate cleft by the "mask-lifting" procedure]. 38
2087277 1990
542
Ocular findings in Treacher Collins syndrome. 38
2396653 1990
543
Application and comparison of techniques for three-dimensional analysis of craniofacial anomalies. 38
2098169 1990
544
Congenital malformations of the external, middle, and inner ear produced by isotretinoin exposure in mouse embryos. 38
2113267 1990
545
Involvement of the thymus and cellular immune system in craniofacial malformation syndromes. 38
2094477 1990
546
[Mandibulofacial dysostosis or Treacher-Collins syndrome: clinical case]. 38
2097952 1990
547
[Anesthesia in a patient with Treacher-Collins syndrome]. 38
2339214 1990
548
Livebirth prevalence and follow-up of malformation syndromes in 27,472 newborns. 38
2092586 1990
549
Prenatal diagnosis by isoenzymic differentiation of Treacher Collins' syndrome induced by retinoids in rats. 38
2177918 1990
550
Orbital protrusion index in Treacher-Collins syndrome: a tool for determining the degree of soft-tissue damage. 38
2639743 1989
551
Treacher Collins syndrome: an otologic challenge. 38
2802464 1989
552
A significant feature of Nager's syndrome: palatal agenesis. 38
2748737 1989
553
Treacher Collins syndrome: present concepts of the disorder and their surgical correction. 38
2773500 1989
554
Pathogenesis of cleft palate in Treacher Collins, Nager, and Miller syndromes. 38
2758673 1989
555
[Treacher-Collins syndrome]. 38
2639499 1989
556
Detailed morphometry of the nose in patients with Treacher Collins syndrome. 38
2735721 1989
557
Treacher-Collins syndrome: an association with polyhydramnios. 38
3141842 1988
558
Emotional and behavioral reactions to facially deformed patients before and after craniofacial surgery. 38
3406177 1988
559
The physical attractiveness of facially deformed patients before and after craniofacial surgery. 38
3399554 1988
560
Familial Treacher-Collins syndrome. 38
3411217 1988
561
[Artificial ventilation of the lungs by transtracheal injection--a method of achieving safety in the tracheal intubation of patients with ankyloses of the temporomandibular joints and in Treacher Collins syndrome]. 38
3164126 1988
562
The aetiology and pathogenesis of craniofacial deformity. 38
3074909 1988
563
Treacher Collins syndrome and achalasia. 38
3443734 1987
564
[Reconstructive surgery of Treacher-Collins syndrome]. 38
3151624 1987
565
Anthropometric evaluation of dysmorphology in craniofacial anomalies: Treacher Collins syndrome. 38
3442295 1987
566
Psychosocial adjustment of 20 patients with Treacher Collins syndrome before and after reconstructive surgery. 38
3690093 1987
567
Anaesthesia for Treacher Collins syndrome. 38
3581409 1987
568
[Maxillofacial abnormalities of syndromes of the 1st branchial arch]. 38
3328544 1987
569
Results of the Tessier integral procedure for correction of Treacher Collins syndrome. 38
3545545 1986
570
[X-ray picture of the skull changes in Treacher Collins' syndrome]. 38
3467474 1986
571
The skeletal anatomy of mandibulofacial dysostosis (Treacher Collins syndrome). 38
3763724 1986
572
Three-dimensional CT reformation in children. 38
3085443 1986
573
Treacher-Collins syndrome and neurofibromatosis. 38
3084396 1986
574
Surface morphology in Treacher Collins syndrome: an anthropometric study. 38
3863724 1985
575
Three-dimensional cranial surface reconstructions using high-resolution computed tomography. 38
4061585 1985
576
An analysis of 12 years of craniomaxillofacial surgery in Toronto. 38
4011777 1985
577
Tracheal intubation in an infant with Treacher-Collins syndrome--pulling out the tongue by a forceps. 38
3970385 1985
578
Cardiorespiratory disease associated with Hallermann-Streiff syndrome: analysis of craniofacial morphology by cephalometric roentgenograms. 38
3877095 1985
579
The use of a temporal osteoperiosteal flap for the reconstruction of malar hypoplasia in Treacher Collins syndrome. 38
6387737 1984
580
Treacher-Collins syndrome with deviated nasal septum. 38
6537408 1984
581
The spectrum of calvarial bone grafting: introduction of the vascularized calvarial bone flap. 38
6739582 1984
582
Prenatal diagnosis of mandibulofacial dysostosis. 38
6463027 1984
583
Treacher-Collins syndrome with sleep apnea: anesthetic considerations. 38
6419642 1984
584
Difficult laryngoscopy/intubation: the child with mandibular hypoplasia. 38
6881849 1983
585
A new fascial flap for use in craniofacial surgery. 38
6625524 1983
586
Bilateral choanal atresia in two members of one family. 38
6854500 1983
587
Spinal dysplasia in Treacher Collins syndrome: a case report. 38
7178993 1982
588
[Treacher Collins syndrome. Case report and review of the literature]. 38
7146522 1982
589
[Combination of various elements of plastic surgery in the treatment of the facial deformities in Treacher-Collins syndrome]. 38
7037322 1981
590
Absence of the lateral canthal tendon in the Treacher-Collins syndrome. 38
7236974 1981
591
Reconstruction of the lower eyelid defect in Treacher Collins syndrome. 38
7232572 1981
592
The ear deformities in mandibulofacial dysostosis (Treacher Collins syndrome). 38
7273449 1981
593
Ketamine for induction and intubation in Treacher-Collins syndrome. 38
7212231 1981
594
Obstructive sleep apnea in Treacher-Collins syndrome. 38
6936100 1981
595
Treacher Collins' syndrome. 38
7252192 1980
596
Atypical unilateral Treacher Collins syndrome. 38
7400595 1980
597
The effect of high doses of retinoic acid on prenatal craniofacial development in Macaca nemestrina. 38
6770484 1980
598
The birth prevalence of malformation syndromes in Tokyo infants: a survey of 14,430 newborn infants. 38
7424972 1980
599
Postaxial acrofacial dysostosis syndrome. 38
501501 1979
600
Hereditary macrostomus in the rabbit: a model for Treacher Collins syndrome, one form of mandibulofacial dysostosis. 38
544686 1979
601
[Coexistence or causal association of congenital toxoplasmosis in an infant with Treacher Collins syndrome?]. 38
545315 1979
602
Treacher-Collins syndrome: report of case. 38
284026 1979
603
Pharyngeal hypoplasia in Treacher Collins syndrome. 38
420650 1979
604
[Otiatric problems in Treacher Collins syndrome]. 38
523127 1979
605
Radiology of the ear in mandibulo-facial dysostosis--Treacher Collins syndrome. 38
452933 1979
606
An atypical case of Treacher Collins syndrome. 38
710339 1978
607
[Treacher Collins syndrome and Goldernhar's syndrome]. 38
691399 1978
608
Treacher Collins syndrome: (a case report). 38
711306 1978
609
Ear morphology in Treacher Collins', Apert's, and Crouzon's syndromes. 38
580574 1978
610
Goldenhar's syndrome. 38
626178 1978
611
[Treacher-Collins-syndrome (author's transl)]. 38
593281 1977
612
Effects of excess vitamin A on the cranial neural crest in the chick embryo. 38
931329 1977
613
Mandibulofacial dysostosis (Treacher--Collins syndrome). 38
903733 1977
614
[Treatment of Treacher Collins syndrome]. 38
590148 1977
615
[Treacher-Collins syndrome]. 38
612843 1977
616
Prenatal mandibulofacial dysostosis (Treacher Collins syndrome). 38
264276 1977
617