CSYN
MCID: CSY001
MIFTS: 49

C Syndrome (CSYN)

Categories: Bone diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for C Syndrome

MalaCards integrated aliases for C Syndrome:

Name: C Syndrome 57 75 53 59 74 37 29 13 6 40
Opitz Trigonocephaly Syndrome 57 53 59 74
Trigonocephaly 75 37 29 55
Trigonocephaly Syndrome 57 53 74
Trigonocephaly C Syndrome 53 59
Opitz Trigonocephaly C Syndrome 59
Opitz C Trigonocephaly 59
Otcs 59
Csyn 74

Characteristics:

Orphanet epidemiological data:

59
c syndrome
Inheritance: Not applicable; Prevalence: 1-9/1000000 (Europe); Age of onset: Antenatal,Neonatal; Age of death: early childhood;

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32

Classifications:



External Ids:

OMIM 57 211750
MeSH 44 D003398
ICD10 via Orphanet 34 Q87.8
UMLS via Orphanet 73 C0796095
Orphanet 59 ORPHA1308
MedGen 42 C0796095

Summaries for C Syndrome

NIH Rare Diseases : 53 C syndrome, also known as Opitz trigonocephaly syndrome, is characterized by trigonocephaly, severe intellectual disability, hypotonia, variable cardiac defects, redundant (extra folds of) skin, joint and limb abnormalities, and unusual facial features such as upslanted palpebral fissures (upward pointing outside corners of the eyes), epicanthal folds, depressed nasal bridge, and low-set, posteriorly rotated ears. This condition is genetically heterogeneous, meaning that there is evidence of more than one type of inheritance. While many cases are sporadic, autosomal recessive, autosomal dominant, and germline mosaicism have all been suggested. At least some cases of C syndrome have been caused by dysfunction of the CD96 gene.

MalaCards based summary : C Syndrome, also known as opitz trigonocephaly syndrome, is related to cat eye syndrome and cleft lip/palate, and has symptoms including seizures An important gene associated with C Syndrome is CD96 (CD96 Molecule), and among its related pathways/superpathways are MAPK signaling pathway and Adherens junction. Affiliated tissues include skin, bone and eye, and related phenotypes are short neck and high palate

OMIM : 57 The C syndrome, also known as Opitz trigonocephaly syndrome, is a malformation syndrome characterized by trigonocephaly, severe mental retardation, hypotonia, variable cardiac defects, redundant skin, and dysmorphic facial features, including upslanted palpebral fissures, epicanthal folds, depressed nasal bridge, and low-set, posteriorly rotated ears (summary by Kaname et al., 2007). C syndrome shows phenotypic overlap with Bohring-Opitz syndrome, or C-like syndrome (605039), a disorder with more severe features than C syndrome, caused by heterozygous mutation in the ASXL1 gene (612990) on chromosome 20q11. (211750)

KEGG : 37
Trigonocephaly is a rare form of craniosynostosis characterized by the premature closure of the metopic suture. It has been reported that mutations in FGFR1 and FREM1 can be associated with trigonocephaly.

UniProtKB/Swiss-Prot : 74 C syndrome: A syndrome characterized by trigonocephaly, severe mental retardation, hypotonia, variable cardiac defects, redundant skin, and dysmorphic facial features, including upslanted palpebral fissures, epicanthal folds, depressed nasal bridge, and low-set, posteriorly rotated ears.

Wikipedia : 75 Trigonocephaly is a congenital condition of premature fusion of the metopic suture (from Greek metopon,... more...

Related Diseases for C Syndrome

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

(showing 262, show less)
# Related Disease Score Top Affiliating Genes
1 cat eye syndrome 31.5 FGFR1 CD96
2 cleft lip/palate 28.5 IFT140 FGFR1
3 trigonocephaly 1 12.7
4 trigonocephaly with short stature and developmental delay 12.7
5 trigonocephaly 2 12.6
6 ornithine transcarbamylase deficiency, hyperammonemia due to 12.4
7 isolated trigonocephaly 12.3
8 trigonocephaly-broad thumbs syndrome 12.2
9 trigonobrachycephaly, bulbous bifid nose, micrognathia, and abnormalities of the hands and feet 11.9
10 chromosome 9p deletion syndrome 11.5
11 jacobsen syndrome 11.5
12 opitz gbbb syndrome, type i 11.5
13 bohring-opitz syndrome 11.4
14 corpus callosum agenesis double urinary collecting 11.3
15 baraitser-winter syndrome 11.3
16 ben ari shuper mimouni syndrome 11.2
17 lowry-maclean syndrome 11.2
18 chromosome 3pter-p25 deletion syndrome 11.2
19 congenital disorder of glycosylation, type iu 11.2
20 orofaciodigital syndrome xiv 11.2
21 dpm2-cdg 11.2
22 carbonic anhydrase va deficiency, hyperammonemia due to 10.5
23 urea cycle disorder 10.4
24 orotic aciduria 10.4
25 allergic rhinitis 10.4
26 rhinitis 10.3
27 common cold 10.3
28 ocular motor apraxia 10.3
29 microcephaly 10.2
30 plagiocephaly 10.2
31 encephalopathy 10.2
32 autism spectrum disorder 10.2
33 gastroesophageal reflux 10.2
34 migraine with or without aura 1 10.2
35 headache 10.2
36 pseudovaginal perineoscrotal hypospadias 10.2
37 orofaciodigital syndrome vi 10.2
38 corpus callosum, partial agenesis of, x-linked 10.2
39 ptosis 10.2
40 neuroretinitis 10.2
41 ventricular septal defect 10.2
42 heart septal defect 10.2
43 cutis laxa 10.2
44 retinitis 10.2
45 hard palate cancer 10.2
46 multiple congenital anomalies/dysmorphic syndrome-intellectual disability 10.2
47 autism 10.1
48 corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia 10.1
49 hydrocephalus 10.1
50 congenital hydrocephalus 10.1
51 muscular dystrophy, duchenne type 10.1
52 constipation 10.1
53 vaginitis 10.1
54 dyspepsia 10.1
55 pneumonia 10.1
56 osteoarthritis 10.1
57 muscular dystrophy 10.1
58 saethre-chotzen syndrome 10.1
59 coloboma of macula 10.1
60 greig cephalopolysyndactyly syndrome 10.1
61 holoprosencephaly 1 10.1
62 astigmatism 10.1
63 pervasive developmental disorder 10.1
64 learning disability 10.1
65 rare surgical neurologic disease 10.1
66 neurofibromatosis, type ii 10.0
67 multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly 10.0
68 asthma 10.0
69 dry eye syndrome 10.0
70 diarrhea 10.0
71 candidiasis 10.0
72 dermatomycosis 10.0
73 bruxism 10.0
74 inherited metabolic disorder 10.0
75 acute liver failure 10.0
76 cleft palate, isolated 9.9
77 coarctation of aorta 9.9
78 attention deficit-hyperactivity disorder 9.9
79 capillary malformations, congenital 9.9
80 retinoblastoma 9.9
81 neural tube defects 9.9
82 sturge-weber syndrome 9.9
83 renal hypodysplasia/aplasia 1 9.9
84 acrocallosal syndrome 9.9
85 carpenter syndrome 1 9.9
86 acrocraniofacial dysostosis 9.9
87 ebstein anomaly 9.9
88 baraitser-winter syndrome 1 9.9
89 mucolipidosis ii alpha/beta 9.9
90 wilson disease 9.9
91 rett syndrome 9.9
92 retinitis pigmentosa 11 9.9
93 muenke syndrome 9.9
94 valproate embryopathy 9.9
95 polymicrogyria with or without vascular-type ehlers-danlos syndrome 9.9
96 oppositional defiant disorder 9.9
97 non-syndromic intellectual disability 9.9
98 kleefstra syndrome 9.9
99 nephrocalcinosis 9.9
100 conduct disorder 9.9
101 communicating hydrocephalus 9.9
102 dysostosis 9.9
103 teratoma 9.9
104 mood disorder 9.9
105 familial retinoblastoma 9.9
106 bilateral retinoblastoma 9.9
107 pafah1b1-associated lissencephaly/subcortical band heterotopia 9.9
108 polymicrogyria 9.9
109 48,xyyy 9.9
110 arachnoid cysts 9.9
111 chromosome 3p duplication 9.9
112 foxg1 syndrome 9.9
113 kaplan plauchu fitch syndrome 9.9
114 weber syndrome 9.9
115 angiomatosis 9.9
116 multicystic dysplastic kidney 9.9
117 cerebral malformation 9.9
118 isolated craniosynostosis 9.9
119 cranial malformation 9.9
120 unilateral multicystic dysplastic kidney 9.9
121 mesocardia 9.9
122 clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly 9.9
123 epicanthus 9.9
124 kabuki syndrome 1 9.9
125 chromosome 2q35 duplication syndrome 9.9
126 tetralogy of fallot 9.9
127 down syndrome 9.9
128 frontoocular syndrome 9.9
129 global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies 9.9
130 brachydactyly 9.9
131 inguinal hernia 9.9
132 meningocele 9.9
133 atrial heart septal defect 9.9
134 hemangioma 9.9
135 talipes equinovarus 9.9
136 alcohol dependence 9.9
137 colorectal cancer 9.9
138 cardiac conduction defect 9.9
139 carpal tunnel syndrome 9.9
140 hypercholesterolemia, familial, 1 9.9
141 otitis media 9.9
142 ovarian cancer 9.9
143 papillomatosis, confluent and reticulated 9.9
144 argininemia 9.9
145 argininosuccinic aciduria 9.9
146 citrullinemia, classic 9.9
147 hyperlysinemia, type i 9.9
148 hyperornithinemia-hyperammonemia-homocitrullinuria syndrome 9.9
149 retinitis pigmentosa 3 9.9
150 hemophilia b 9.9
151 prostatic hyperplasia, benign 9.9
152 propionic acidemia 9.9
153 anxiety 9.9
154 colorectal cancer 1 9.9
155 gastrointestinal ulceration, recurrent, with dysfunctional platelets 9.9
156 cardiac arrest 9.9
157 pollen allergy 9.9
158 bacterial infectious disease 9.9
159 interstitial nephritis 9.9
160 prostatic hypertrophy 9.9
161 chlamydia 9.9
162 pyelonephritis 9.9
163 nephrotic syndrome 9.9
164 allergic hypersensitivity disease 9.9
165 low compliance bladder 9.9
166 hepatic coma 9.9
167 hepatic encephalopathy 9.9
168 gonadal dysgenesis 9.9
169 reye syndrome 9.9
170 urticaria 9.9
171 angioedema 9.9
172 rheumatic disease 9.9
173 enthesopathy 9.9
174 dental caries 9.9
175 vulvovaginitis 9.9
176 gastroenteritis 9.9
177 kernicterus 9.9
178 long qt syndrome 9.9
179 prostatic adenoma 9.9
180 iga glomerulonephritis 9.9
181 acute kidney failure 9.9
182 glioblastoma multiforme 9.9
183 turner syndrome 9.9
184 theileriasis 9.9
185 fibrolamellar carcinoma 9.9
186 infertility 9.9
187 panic disorder 9.9
188 congestive heart failure 9.9
189 mitral valve disease 9.9
190 premenstrual tension 9.9
191 peptic ulcer disease 9.9
192 chronic kidney disease 9.9
193 osteochondrosis 9.9
194 periodontitis 9.9
195 osteochondritis dissecans 9.9
196 vasculitis 9.9
197 hemophilia 9.9
198 47,xyy 9.9
199 glioblastoma 9.9
200 mast cell activation syndrome 9.9
201 ring chromosome 2 9.9
202 cerebral atrophy 9.9
203 idiopathic avascular necrosis 9.9
204 pik3ca-related overgrowth syndrome 9.9
205 skeletal muscle disease 9.9
206 mucopolysaccharidosis, type iiic 9.7
207 mucopolysaccharidosis-plus syndrome 9.7
208 mucopolysaccharidosis iii 9.7
209 retinitis pigmentosa 9.5
210 polydactyly 9.5
211 retinitis pigmentosa 73 9.5
212 exanthem 9.5
213 pseudohypoaldosteronism 9.5
214 cleft lip 9.5
215 acanthosis nigricans 9.4
216 hypertelorism 9.4
217 medulloblastoma 9.4
218 polydactyly, postaxial, type a1 9.4
219 split-hand/foot malformation 1 9.4
220 strabismus 9.4
221 short-rib thoracic dysplasia 1 with or without polydactyly 9.4
222 cryptorchidism, unilateral or bilateral 9.4
223 lymphoma, hodgkin, classic 9.4
224 short-rib thoracic dysplasia 9 with or without polydactyly 9.4
225 dermatitis, atopic 9.4
226 lymphoma, non-hodgkin, familial 9.4
227 microvascular complications of diabetes 3 9.4
228 microvascular complications of diabetes 4 9.4
229 microvascular complications of diabetes 6 9.4
230 microvascular complications of diabetes 7 9.4
231 mental retardation with language impairment and with or without autistic features 9.4
232 alacrima, achalasia, and mental retardation syndrome 9.4
233 schaaf-yang syndrome 9.4
234 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 9.4
235 alkuraya-kucinskas syndrome 9.4
236 autosomal recessive disease 9.4
237 syndromic intellectual disability 9.4
238 omphalocele 9.4
239 lymphocytic leukemia 9.4
240 patau syndrome 9.4
241 synostosis 9.4
242 amenorrhea 9.4
243 pericarditis 9.4
244 hyperinsulinism 9.4
245 ectodermal dysplasia 9.4
246 craniosynostosis 9.4
247 dermatitis 9.4
248 conjunctivitis 9.4
249 peritonitis 9.4
250 fundus dystrophy 9.4
251 mechanical strabismus 9.4
252 exophthalmos 9.4
253 intracranial hypertension 9.4
254 fgfr-related craniosynostosis syndromes 9.4
255 chromosomal triplication 9.4
256 chromosome 4q deletion 9.4
257 intellectual disability-severe speech delay-mild dysmorphism syndrome 9.4
258 hypotonia 9.4
259 isolated split hand-split foot malformation 9.4
260 ciliopathy 9.4
261 congenital amyoplasia 9.4
262 inherited retinal disorder 9.4

Graphical network of the top 20 diseases related to C Syndrome:



Diseases related to C Syndrome

Symptoms & Phenotypes for C Syndrome

Human phenotypes related to C Syndrome:

59 32 (showing 81, show less)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 short neck 59 32 hallmark (90%) Very frequent (99-80%) HP:0000470
2 high palate 59 32 hallmark (90%) Very frequent (99-80%) HP:0000218
3 intellectual disability 59 32 hallmark (90%) Very frequent (99-80%) HP:0001249
4 gingival overgrowth 59 32 hallmark (90%) Very frequent (99-80%) HP:0000212
5 depressed nasal bridge 59 32 hallmark (90%) Very frequent (99-80%) HP:0005280
6 short nose 59 32 hallmark (90%) Very frequent (99-80%) HP:0003196
7 microcephaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0000252
8 smooth philtrum 59 32 hallmark (90%) Very frequent (99-80%) HP:0000319
9 anteverted nares 59 32 hallmark (90%) Very frequent (99-80%) HP:0000463
10 long philtrum 59 32 hallmark (90%) Very frequent (99-80%) HP:0000343
11 micrognathia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000347
12 epicanthus 59 32 hallmark (90%) Very frequent (99-80%) HP:0000286
13 biparietal narrowing 59 32 hallmark (90%) Very frequent (99-80%) HP:0004422
14 cryptorchidism 59 32 hallmark (90%) Very frequent (99-80%) HP:0000028
15 clinodactyly of the 5th finger 59 32 hallmark (90%) Very frequent (99-80%) HP:0004209
16 trigonocephaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0000243
17 low-set, posteriorly rotated ears 59 32 hallmark (90%) Very frequent (99-80%) HP:0000368
18 hypoplasia of the ear cartilage 59 32 hallmark (90%) Very frequent (99-80%) HP:0100720
19 upslanted palpebral fissure 59 32 hallmark (90%) Very frequent (99-80%) HP:0000582
20 female pseudohermaphroditism 59 32 hallmark (90%) Very frequent (99-80%) HP:0010458
21 pectus excavatum 59 32 frequent (33%) Frequent (79-30%) HP:0000767
22 seizures 59 32 frequent (33%) Frequent (79-30%) HP:0001250
23 muscular hypotonia 59 32 frequent (33%) Frequent (79-30%) HP:0001252
24 short stature 59 32 frequent (33%) Frequent (79-30%) HP:0004322
25 sacral dimple 59 32 frequent (33%) Frequent (79-30%) HP:0000960
26 strabismus 59 32 frequent (33%) Frequent (79-30%) HP:0000486
27 micromelia 59 32 frequent (33%) Frequent (79-30%) HP:0002983
28 limitation of joint mobility 59 32 frequent (33%) Frequent (79-30%) HP:0001376
29 abnormality of the anus 59 32 frequent (33%) Frequent (79-30%) HP:0004378
30 failure to thrive in infancy 59 32 frequent (33%) Frequent (79-30%) HP:0001531
31 abnormality of immune system physiology 59 32 frequent (33%) Frequent (79-30%) HP:0010978
32 talipes 59 32 frequent (33%) Frequent (79-30%) HP:0001883
33 bilateral single transverse palmar creases 59 32 frequent (33%) Frequent (79-30%) HP:0007598
34 redundant skin 59 32 frequent (33%) Frequent (79-30%) HP:0001582
35 thin vermilion border 59 32 frequent (33%) Frequent (79-30%) HP:0000233
36 accessory oral frenulum 59 32 frequent (33%) Frequent (79-30%) HP:0000191
37 dislocated radial head 59 32 frequent (33%) Frequent (79-30%) HP:0003083
38 midline facial capillary hemangioma 59 32 frequent (33%) Frequent (79-30%) HP:0007601
39 abnormality of cardiovascular system morphology 32 frequent (33%) HP:0030680
40 constipation 59 32 occasional (7.5%) Occasional (29-5%) HP:0002019
41 cleft palate 59 32 occasional (7.5%) Occasional (29-5%) HP:0000175
42 aplasia/hypoplasia of the abdominal wall musculature 59 32 occasional (7.5%) Occasional (29-5%) HP:0010318
43 horseshoe kidney 59 32 occasional (7.5%) Occasional (29-5%) HP:0000085
44 renal hypoplasia/aplasia 59 32 occasional (7.5%) Occasional (29-5%) HP:0008678
45 multicystic kidney dysplasia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000003
46 polyhydramnios 59 32 occasional (7.5%) Occasional (29-5%) HP:0001561
47 hand polydactyly 59 32 occasional (7.5%) Occasional (29-5%) HP:0001161
48 abnormal hair pattern 59 32 occasional (7.5%) Occasional (29-5%) HP:0010720
49 congenital diaphragmatic hernia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000776
50 toe syndactyly 59 32 occasional (7.5%) Occasional (29-5%) HP:0001770
51 aplasia/hypoplasia of the corpus callosum 59 32 occasional (7.5%) Occasional (29-5%) HP:0007370
52 omphalocele 59 32 occasional (7.5%) Occasional (29-5%) HP:0001539
53 low-set ears 32 HP:0000369
54 joint dislocation 59 Frequent (79-30%)
55 clinodactyly 32 HP:0030084
56 failure to thrive 32 HP:0001508
57 scoliosis 32 HP:0002650
58 global developmental delay 32 HP:0001263
59 hepatomegaly 32 HP:0002240
60 delayed skeletal maturation 32 HP:0002750
61 wide nasal bridge 32 HP:0000431
62 generalized hypotonia 32 HP:0001290
63 malformation of the heart and great vessels 59 Frequent (79-30%)
64 death in infancy 59 Occasional (29-5%)
65 patent ductus arteriosus 32 HP:0001643
66 hip dislocation 32 HP:0002827
67 wide mouth 32 HP:0000154
68 ventricular septal defect 32 HP:0001629
69 ulnar deviation of finger 32 HP:0009465
70 short metacarpal 32 HP:0010049
71 postaxial hand polydactyly 32 HP:0001162
72 postaxial foot polydactyly 32 HP:0001830
73 posteriorly rotated ears 32 HP:0000358
74 radial deviation of finger 32 HP:0009466
75 renal cortical cysts 32 HP:0000803
76 limb undergrowth 32 HP:0009826
77 cutis laxa 32 HP:0000973
78 clitoral hypertrophy 32 HP:0008665
79 thick anterior alveolar ridges 32 HP:0009100
80 psychomotor retardation 32 HP:0025356
81 fused sternal ossification centers 32 HP:0006643

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Ears:
low-set ears
posteriorly rotated ears

Neurologic Central Nervous System:
seizures
psychomotor retardation
hypotonia

Skeletal Spine:
scoliosis

Skeletal:
delayed skeletal maturation

Head And Neck Head:
microcephaly
trigonocephaly

Head And Neck Face:
micrognathia

Cardiovascular Vascular:
patent ductus arteriosus

Skeletal Pelvis:
hip dislocation

Abdomen External Features:
omphalocele

Genitourinary Kidneys:
renal cortical cysts

Chest Ribs Sternum Clavicles And Scapulae:
fused sternal ossification centers
pectus deformities
anomalous ribs

Genitourinary External Genitalia Female:
prominent clitoris

Skeletal Hands:
clinodactyly
postaxial polydactyly
ulnar deviation of the fingers
terminal transverse limb reduction
metacarpal hypoplasia

Growth Other:
failure to thrive

Abdomen Liver:
hepatomegaly

Head And Neck Nose:
short nose
anteverted nares
broad nasal bridge

Growth Height:
short stature

Head And Neck Eyes:
strabismus
epicanthal folds
upward slanting palpebral fissures

Genitourinary Internal Genitalia Male:
cryptorchidism

Cardiovascular Heart:
ventricular septal defect

Skeletal Feet:
syndactyly
postaxial polydactyly
terminal transverse limb reduction

Head And Neck Mouth:
thick anterior alveolar ridges
high-arched palate
macrostomia
oral frenula

Skeletal Limbs:
radial head dislocation
short limbs

Skin Nails Hair Skin:
skin laxity

Clinical features from OMIM:

211750

UMLS symptoms related to C Syndrome:


seizures

MGI Mouse Phenotypes related to C Syndrome:

46 (showing 1, show less)
# Description MGI Source Accession Score Top Affiliating Genes
1 renal/urinary system MP:0005367 8.8 FGFR1 HGSNAT IFT140

Drugs & Therapeutics for C Syndrome

Interventional clinical trials:

(showing 3, show less)
# Name Status NCT ID Phase Drugs
1 Quantifying the Attentive Behaviors of Older Adults During Over-the-counter Drug Selection Completed NCT02188134
2 Treatment of Persistent Urinary Incontinence in Children Completed NCT00124046
3 Comparison of Supportive Therapies for Symptom Relief From Pediatric Upper Respiratory Infections (URIs) Withdrawn NCT01814293

Search NIH Clinical Center for C Syndrome

Genetic Tests for C Syndrome

Genetic tests related to C Syndrome:

# Genetic test Affiliating Genes
1 C Syndrome 29 CD96
2 Trigonocephaly 29

Anatomical Context for C Syndrome

MalaCards organs/tissues related to C Syndrome:

41
Skin, Bone, Eye, Kidney, Heart, Brain, Testes

Publications for C Syndrome

Articles related to C Syndrome:

(showing 449, show less)
# Title Authors PMID Year
1
Mutations in CD96, a member of the immunoglobulin superfamily, cause a form of the C (Opitz trigonocephaly) syndrome. 38 8 71
17847009 2007
2
Opitz trigonocephaly C syndrome in a boy with a de novo balanced reciprocal translocation t(3;18)(q13.13;q12.1). 38 8
16835930 2006
3
Trisomy of 3pter in a patient with apparent C (trigonocephaly) syndrome. 38 8
11038445 2000
4
Severe end of Opitz trigonocephaly (C) syndrome or new syndrome? 38 8
10405439 1999
5
Probable Opitz trigonocephaly C syndrome with medulloblastoma. 38 8
9098489 1997
6
"C" trigonocephaly syndrome: report of a child with agenesis of the corpus callosum and tetralogy of Fallot, and review. 38 8
7625448 1995
7
"C" trigonocephaly syndrome with diaphragmnatic hernia. 38 8
7546453 1995
8
Opitz-C syndrome: on the nosology of mental retardation and trigonocephaly. 38 8
1472356 1992
9
Opitz trigonocephaly syndrome. 38 8
1746609 1991
10
Opitz C syndrome and pseudohypoaldosteronism. 38 8
2175542 1990
11
"C" trigonocephaly syndrome: clinical variability and possibility of surgical treatment. 38 8
2260586 1990
12
C syndrome with apparently normal development. 38 8
2260587 1990
13
"C" trigonocephaly syndrome: two additional cases. 38 8
2260588 1990
14
Trigonocephaly and the Opitz C syndrome. 38 8
3981579 1985
15
Optiz trigonocephaly syndrome: report of two cases. 38 8
6698065 1984
16
Further delineation of the C (trigonocephaly) syndrome. 38 8
7258228 1981
17
The Opitz trigonocephaly syndrome. A case report. 38 8
1190170 1975
18
A Japanese boy with apparent Bohring-Opitz or "C-like" syndrome. 8
16528754 2006
19
Mutational screening of FGFR1, CER1, and CDON in a large cohort of trigonocephalic patients. 9 38
16526918 2006
20
An unusual FGFR1 mutation (fibroblast growth factor receptor 1 mutation) in a girl with non-syndromic trigonocephaly. 9 38
11173846 2000
21
Three de novo DDX3X variants associated with distinctive brain developmental abnormalities and brain tumor in intellectually disabled females. 38
30936465 2019
22
Follow-up study to investigate symmetry and stability of cranioplasty in craniosynostosis - Introduction of new pathology-specific parameters and a comparison to the norm population. 38
31353298 2019
23
Why do metopic sutural synostoses angulate? The concept of nasion sutural complex and its implication on the management of hypotelorism-early results and proof of concept. 38
30847619 2019
24
Statistical shape analyses of trigonocephaly patients. 38
31243581 2019
25
Trigonocephaly: Long-term results after surgical correction of metopic suture synostosis. 38
30712337 2019
26
Mild trigonocephaly associated with microcephaly: surgical outcomes for 15 cases. 38
30798373 2019
27
The Endocranial Bifrontal Angle: A Longitudinal Evaluation in Two Patients With Metopic Synostosis. 38
30939543 2019
28
Incidence of Familial Craniosynostosis Among Patients with Nonsyndromic Craniosynostosis. 38
30921071 2019
29
Exome sequencing reveals a novel splice site variant in HUWE1 gene in patients with suspected Say-Meyer syndrome. 38
30797980 2019
30
Partial Trisomy of Chromosome 13 with a Novel Translocation (8 ; 13) and Unique Clinical Presentation in a Palestinian Infant. 38
30936921 2019
31
Trigonocephaly: Case Report, Review of Literature and a Technical Note. 38
30740173 2019
32
Microcephaly/Trigonocephaly, Intellectual Disability, Autism Spectrum Disorder, and Atypical Dysmorphic Features in a Boy with Xp22.31 Duplication. 38
30733660 2019
33
Subsegmental Osteotomy Technique With Distraction Osteogenesis for Natural Frontal Contouring in Metopic Synostosis. 38
29649371 2019
34
Control of metopic emissary veins in trigonocephaly surgery. Technical note. 38
30054806 2018
35
Long-Term Results in Isolated Metopic Synostosis: The Oxford Experience over 22 Years. 38
30020237 2018
36
Prenatal ultrasound parameters in single-suture craniosynostosis. 38
28553772 2018
37
Monosomy 9p24 in two non-related patients as result of a translocation (2;9). 38
30016040 2018
38
Isolated Post-Shunt Metopic Synostosis and Neural Tube Defects. 38
29561489 2018
39
Safety Outcomes in Endoscopic Versus Open Repair of Metopic Craniosynostosis. 38
29461368 2018
40
Craniosynostosis as a clinical and diagnostic problem: molecular pathology and genetic counseling. 38
29392564 2018
41
Comparison of an unsupervised machine learning algorithm and surgeon diagnosis in the clinical differentiation of metopic craniosynostosis and benign metopic ridge. 38
29679032 2018
42
Volumetric lipoinjection of the fronto-orbital and temporal complex with adipose stem cells for the aesthetic restoration of sequelae of craniosynostosis. 38
29566469 2018
43
Intraoperative and postoperative complications in the surgical treatment of craniosynostosis: minimally invasive versus open surgical procedures. 38
29171801 2018
44
Cranial shape comparison for automated objective 3D craniosynostosis surgery planning. 38
29463840 2018
45
Bohring-Opitz Syndrome 38
29446906 2018
46
Shimoji's Cranioplasty Yielding Life-quality Improvements in MIld Trigonocephaly (SCYLIMIT). 38
30679895 2018
47
Surgical Hypercorrection of Trigonocephaly: Evaluation of Surgical Outcomes. 38
29068967 2018
48
Clinical Evaluation of Standardized Fronto-Orbital Advancement for Correction of Isolated Trigonocephaly. 38
29040150 2018
49
A De Novo FOXP1 Truncating Mutation in a Patient Originally Diagnosed as C Syndrome. 38
29330474 2018
50
Endoscopy-assisted craniosynostosis surgery followed by helmet therapy. 38
29629226 2018
51
Osseous Convexity at the Anterior Fontanelle: A Presentation of Metopic Fusion? 38
29227405 2018
52
Use of Acellular Dermal Matrix in Craniosynostosis. 38
29135736 2018
53
Relationship of a Metopic Ridge and Anterior Cranial Volume Measured by a Noninvasive Laser Shape Digitizer. 38
29065051 2018
54
Perinatal complications in patients with unisutural craniosynostosis: An international multicentre retrospective cohort study. 38
28935489 2017
55
Surgical Outcome of Simplified Horse-Shoe Technique With the Traditional Procedure in Children With Trigonocephaly. 38
28962089 2017
56
Fetal Valproate Syndrome - Still a Problem Today! 38
29073690 2017
57
Reply: Very Low Prevalence of Intracranial Hypertension in Trigonocephaly. 38
28590977 2017
58
Very Low Prevalence of Intracranial Hypertension in Trigonocephaly. 38
28841631 2017
59
The self-defining axis of symmetry: A new method to determine optimal symmetry and its application and limitation in craniofacial surgery. 38
28756967 2017
60
Bohring-opitz syndrome - A case of a rare genetic disorder. 38
28889139 2017
61
Baraitser-Winter cerebrofrontofacial syndrome. 38
27625340 2017
62
Variations in Current Procedural Terminology Coding for Craniofacial Surgery: A Need for Review and Change. 38
28665842 2017
63
Expanding the phenotype of reciprocal 1q21.1 deletions and duplications: a case series. 38
28724436 2017
64
A new method for three-dimensional evaluation of the cranial shape and the automatic identification of craniosynostosis using 3D stereophotogrammetry. 38
28392059 2017
65
Use of cutting guides during craniosynostosis sequelae surgery: A comparative study between computer-assisted planning and post-operative results. 38
28434829 2017
66
The Management of Trigonoscaphocephaly as a Result of Combined Metopic and Sagittal Synostosis. 38
28538575 2017
67
Anthropometric Outcome Measures in Patients With Metopic Craniosynostosis. 38
28468154 2017
68
Radiation-free 3D head shape and volume evaluation after endoscopically assisted strip craniectomy followed by helmet therapy for trigonocephaly. 38
28318916 2017
69
Insight into the Pathophysiologic Mechanisms behind Cognitive Dysfunction in Trigonocephaly. 38
28350677 2017
70
Raine Syndrome (OMIM #259775), Caused By FAM20C Mutation, Is Congenital Sclerosing Osteomalacia With Cerebral Calcification (OMIM 259660). 38
27862258 2017
71
Compound heterozygous mutations in the IFT140 gene cause Opitz trigonocephaly C syndrome in a patient with typical features of a ciliopathy. 38
27874174 2017
72
A De Novo Nonsense Mutation in MAGEL2 in a Patient Initially Diagnosed as Opitz-C: Similarities Between Schaaf-Yang and Opitz-C Syndromes. 38
28281571 2017
73
Trigonocephaly - Our Experience and Treatment in the Republic of Macedonia. 38
28593893 2017
74
Comparison between piezosurgery and conventional osteotomy in cranioplasty with fronto-orbital advancement. 38
28108236 2017
75
Quantifying the effect of corrective surgery for trigonocephaly: A non-invasive, non-ionizing method using three-dimensional handheld scanning and statistical shape modelling. 38
28159480 2017
76
The Severity of Deformity in Metopic Craniosynostosis Is Correlated with the Degree of Neurologic Dysfunction. 38
28121881 2017
77
Bainbridge-Ropers syndrome caused by loss-of-function variants in ASXL3: a recognizable condition. 38
27901041 2017
78
A Case Report of 9p Deletion Syndrome Associated with Partial Trisomy of 1q42. 38
28878839 2017
79
Very Low Prevalence of Intracranial Hypertension in Trigonocephaly. 38
28027242 2017
80
Children with Metopic Ridge. 38
27476922 2017
81
Syndromic Craniosynostosis Can Define New Candidate Genes for Suture Development or Result from the Non-specifc Effects of Pleiotropic Genes: Rasopathies and Chromatinopathies as Examples. 38
29093661 2017
82
Clinical findings and molecular cytogenetic study of de novo pure chromosome 9p deletion: Pre- and postnatal diagnosis. 38
28040136 2016
83
Phenotypic variability in patients with interstitial 6q21-q22 microdeletion and Acro-Cardio-Facial syndrome. 38
27191798 2016
84
[Non syndromic craniosynostosis]. 38
27499256 2016
85
Combination of Sturge-Weber Syndrome and Trigonocephaly. 38
27557468 2016
86
The metopic index: an anthropometric index for the quantitative assessment of trigonocephaly from metopic synostosis. 38
27153376 2016
87
Metopic "ridge" vs. "craniosynostosis": Quantifying severity with 3D curvature analysis. 38
27449480 2016
88
Endoscopically assisted craniosynostosis surgery (EACS): The craniofacial team Nijmegen experience. 38
27298150 2016
89
Long-Term Assessment of Suturectomy in Trigonocephaly and Anterior Plagiocephaly. 38
27092924 2016
90
Objective Assessment of the Interfrontal Angle for Severity Grading and Operative Decision-Making in Metopic Synostosis. 38
27119927 2016
91
Clinical and neuroradiological features of the 9p deletion syndrome. 38
26597681 2016
92
Screening of CD96 and ASXL1 in 11 patients with Opitz C or Bohring-Opitz syndromes. 38
26768331 2016
93
Interstitial 9p24.3 deletion involving only DOCK8 and KANK1 genes in two patients with non-overlapping phenotypic traits. 38
26656975 2016
94
What's in a Name? Accurately Diagnosing Metopic Craniosynostosis Using a Computational Approach. 38
26710024 2016
95
A large Indian family with rearrangement of chromosome 4p16 and 3p26.3 and divergent clinical presentations. 38
26554554 2015
96
Activity and High-Order Effective Connectivity Alterations in Sanfilippo C Patient-Specific Neuronal Networks. 38
26411903 2015
97
EXTL2 and EXTL3 inhibition with siRNAs as a promising substrate reduction therapy for Sanfilippo C syndrome. 38
26347037 2015
98
Ethical fallacies, tricky ambiguities, and the misinterpretation of the outcomes in the cranioplasty for mild trigonocephaly. 38
25896220 2015
99
Frontal cranial modeling using endocranial resorbable plate fixation in 27 consecutive plagiocephaly and trigonocephaly patients. 38
25715840 2015
100
Say-Meyer syndrome: additional manifestations in a new patient and phenotypic assessment. 38
25904354 2015
101
A new operative open-wings technique to correct the frontoforehead unit in metopic synostosis. 38
25850875 2015
102
Diagnosis of 9q22.3 microdeletion syndrome in utero following identification of craniosynostosis, overgrowth, and skeletal anomalies. 38
25706929 2015
103
Analysis of pre- and post-operative symptoms of patients with mild trigonocephaly using several developmental and psychological tests. 38
25466280 2015
104
Are endoscopic and open treatments of metopic synostosis equivalent in treating trigonocephaly and hypotelorism? 38
25534056 2015
105
A rare case of a familial form of nonsyndromic trigonocephaly. 38
26523198 2015
106
Evidence that homozygous PTPRD gene microdeletion causes trigonocephaly, hearing loss, and intellectual disability. 38
26082802 2015
107
[The clinical picture of nonsyndromic craniosynostosis in children]. 38
26356610 2015
108
Anthropometry of craniosynostosis. 38
26188939 2015
109
Prenatal diagnosis of a de novo 9p terminal chromosomal deletion in a fetus with major congenital anomalies. 38
25510709 2014
110
Comparing two fronto-orbital advancement strategies to treat trigonocephaly in metopic synostosis. 38
24997751 2014
111
Stereolithographic skull models in the surgical planning of fronto-supraorbital bar advancement for non-syndromic trigonocephaly. 38
24530077 2014
112
Cerebral oxygenation and hemodynamic measurements during craniosynostosis surgery with near-infrared spectroscopy. 38
24788567 2014
113
Percentile-based assessment of craniosynostosis. 38
24717668 2014
114
Long-term incidence of sensory disturbance in the forehead after fronto-orbital advancement in isolated nonsyndromic craniosynostosis. 38
23948504 2014
115
The value of ultrasound-assisted pinned resorbable osteosynthesis for cranial vault remodelling in craniosynostosis. 38
24011607 2014
116
Three-dimensional orbital dysmorphology in metopic synostosis. 38
24820454 2014
117
Opioid consumption after levobupivacaine scalp nerve block for craniosynostosis surgery. 38
25016510 2014
118
Case report. Familial balanced translocation leading to an offspring with phenotypic manifestations of 9p syndrome. 38
25036174 2014
119
Neurodevelopmental and esthetic results in children after surgical correction of metopic suture synostosis: a single institutional experience. 38
24337567 2014
120
Genes associated with low serum high-density lipoprotein cholesterol. 38
24916532 2014
121
Assessing aesthetic outcomes after trigonocephaly correction. 38
23417755 2014
122
Trigonocephaly: A simple modified technique. 38
25250065 2014
123
Thin genu of the corpus callosum points to mutation in FOXG1 in a child with acquired microcephaly, trigonocephaly, and intellectual developmental disorder: a case report and review of literature. 38
24388699 2014
124
Extradural abscess secondary to Salmonella enteritidis in a child following fronto-orbital facial advancement and remodeling surgery. 38
24514892 2014
125
Correction of hypotelorism in isolated metopic synostosis. 38
23848421 2014
126
Does an elevated bony ridge along the course of the metopic suture equal metopic synostosis? Implications for management. 38
24406558 2014
127
A de novo 11q23 deletion in a patient presenting with severe ophthalmologic findings, psychomotor retardation and facial dysmorphism. 38
24827952 2014
128
Trigonocephaly: Lille's surgical technique. 38
23900629 2013
129
Editorial on trigonocephaly. 38
23929134 2013
130
The shell technique: bilateral fronto-orbital reshaping in trigonocephaly. 38
22914920 2013
131
Pathology in metopic synostosis. 38
24092422 2013
132
Parallel angulated frontal bone slat cuts for treatment of metopic synostosis and other frontal skull deformities: the "cathedral dome procedure". 38
23904041 2013
133
Constitutional 11q14-q22 chromosome deletion syndrome in a child with neuroblastoma MYCN single copy. 38
24035971 2013
134
The first report of nephrocalcinosis in a patient with a 16q23.1-16q23.3 deletion, global developmental delay, trigonocephaly, and portocaval shunt. 38
24326958 2013
135
Cranial vault growth patterns of plagiocephaly and trigonocephaly patients following fronto-orbital advancement: a long-term anthropometric outcome assessment. 38
23332468 2013
136
Second family with the Boston-type craniosynostosis syndrome: novel mutation and expansion of the clinical spectrum. 38
23918290 2013
137
Modeling and biomechanical analysis of craniosynostosis correction with the use of finite element method. 38
23349146 2013
138
9p partial monosomy and disorders of sex development: review and postulation of a pathogenetic mechanism. 38
23824832 2013
139
Delineation of a new chromosome 20q11.2 duplication syndrome including the ASXL1 gene. 38
23704076 2013
140
A de novo GLI3 mutation in a patient with acrocallosal syndrome. 38
23633388 2013
141
Ring chromosome 9 in a girl with developmental delay and dysmorphic features: case report and review of the literature. 38
23633410 2013
142
Jacobsen syndrome without thrombocytopenia: a case report and review of the literature. 38
24192682 2013
143
Patient with terminal 9 Mb deletion of chromosome 9p: refining the critical region for 9p monosomy syndrome with trigonocephaly. 38
23480358 2013
144
De novo unbalanced translocation leading to monosomy 9p24.3p24.1 and trisomy 19q13.42q13.43 characterized by microarray-based comparative genomic hybridization in a child with partial cortical dysplasia and craniofacial dysmorphisms without trigonocephaly. 38
23401394 2013
145
Letter to the editor: trigonocephaly. 38
23198841 2013
146
The first Korean case of mucopolysaccharidosis IIIC (Sanfilippo syndrome type C) confirmed by biochemical and molecular investigation. 38
23301227 2013
147
Radiographic characterization of the hands in Ritscher-Schinzel/3-C syndrome. 38
24255872 2013
148
Analysis of cosmetic results of metopic synostosis: concordance and interobserver variability. 38
23348306 2013
149
Ring chromosome 9 in a newborn. 38
24551976 2013
150
Objectification of cranial vault correction for craniosynostosis by three-dimensional photography. 38
22364839 2012
151
Cognitive and behavioral functioning in 82 patients with trigonocephaly. 38
23018698 2012
152
Discussion: Cognitive and behavioral functioning in 82 patients with trigonocephaly. 38
23018699 2012
153
Endoscopic-assisted treatment of trigonocephaly. 38
22872252 2012
154
Classification of trigonocephaly in metopic synostosis. 38
22929268 2012
155
A case of 9p deletion syndrome with Duane retraction syndrome. 38
27625822 2012
156
Genetic basis of single-suture synostoses: genes, chromosomes and clinical implications. 38
22872241 2012
157
Value of preoperative imaging in the diagnostics of isolated metopic suture synostosis: a risk-benefit analysis. 38
22534123 2012
158
Metopic synostosis. 38
22872249 2012
159
Anterior fronto-orbital remodeling for trigonocephay. 38
22872250 2012
160
Complex rearrangement involving 9p deletion and duplication in a syndromic patient: genotype/phenotype correlation and review of the literature. 38
22537675 2012
161
Trigonocephaly: results after surgical correction of nonsyndromatic isolated metopic suture synostosis in 54 cases. 38
21724409 2012
162
KRAS gene mutations in Noonan syndrome familial cases cluster in the vicinity of the switch II region of the G-domain: report of another family with metopic craniosynostosis. 38
22488932 2012
163
Simulated fronto-orbital advancement achieves reproducible results in metopic synostosis. 38
22627442 2012
164
Interfrontal angle for characterization of trigonocephaly: part 1: development and validation of a tool for diagnosis of metopic synostosis. 38
22565928 2012
165
Lipofibromatosis accompanied by several congenital anomalies, report of a rare case. 38
22771655 2012
166
Morphometric classification of cranial vault deformation in trigonocephaly: a preliminary study in 10 patients. 38
23009448 2012
167
Cobalamin F disease detected by newborn screening and follow-up on a 14-year-old patient. 38
22065268 2011
168
Heterozygous mutations of FREM1 are associated with an increased risk of isolated metopic craniosynostosis in humans and mice. 38
21931569 2011
169
Metopic and sagittal synostosis in Greig cephalopolysyndactyly syndrome: five cases with intragenic mutations or complete deletions of GLI3. 38
21326280 2011
170
Opitz trigonocephaly syndrome presenting with sudden unexplained death in the operating room: a case report. 38
21689463 2011
171
Biomechanical analysis of the effect of intracranial pressure on the orbital distances in trigonocephaly. 38
21388299 2011
172
Surgical treatment of trigonocephaly: technique and long-term results in 48 cases. 38
21361772 2011
173
A girl with metopic synostosis and trisomy 13 mosaicism: case report and review of the literature. 38
21344634 2011
174
Severe fetal valproate syndrome: combination of complex cardiac defect, multicystic dysplastic kidney, and trigonocephaly. 38
21291342 2011
175
In situ fronto-orbital advancement with medial orbital osteotomies for trigonocephaly-associated hypotelorism. 38
21239919 2011
176
A severely mental and motor retarded boy with monosomy 9pter-->p22 trisomy 10q26-->qter due to paternal reciprocal translocation 46,XY,t(9;10)(p23;q26). 38
22303803 2011
177
Surgical treatment of metopic synostosis. 38
21233734 2011
178
Partial deletion 9p syndrome in Malaysian children. 38
21939171 2010
179
Little evidence of association between severity of trigonocephaly and cognitive development in infants with single-suture metopic synostosis. 38
20644427 2010
180
Metopic craniosynostosis due to mutations in GLI3: A novel association. 38
20583172 2010
181
Functional analysis of the HGSNAT gene in patients with mucopolysaccharidosis IIIC (Sanfilippo C Syndrome). 38
20583299 2010
182
Atrioventricular block and diastolic dysfunction in a patient with Sanfilippo C. 38
21048366 2010
183
Papilledema in isolated single-suture craniosynostosis: prevalence and predictive factors. 38
20072027 2010
184
Anterior two-thirds calvarial remodelling: operative technique for the correction of metopic synostosis in toddlers. 38
19036661 2010
185
Fetal sodium valproate exposure causes Baller-Gerold syndrome phenotype: both phenotypes in the same family. 38
20196403 2009
186
Characterization of deletions at 9p affecting the candidate regions for sex reversal and deletion 9p syndrome by MLPA. 38
19417767 2009
187
Sincipital encephaloceles. 38
19816364 2009
188
Variations of endoscopic and open repair of metopic craniosynostosis. 38
19816275 2009
189
Craniosynostosis : correlation with cranial vault shape and osseous defects. 38
24207149 2009
190
Evolution in the frequency of nonsyndromic craniosynostosis. 38
19569905 2009
191
"Opitz C syndrome and pseudohypoaldosteronism" is caused by a chromosome 4q deletion. 38
19449408 2009
192
Investigation of the candidate region for trigonocephaly in a patient with monosomy 9p syndrome using array-CGH. 38
19396833 2009
193
On the origin of bitemporal hollowing. 38
19381101 2009
194
Two cases of 9p deletion syndrome and a case of partial trisomy 8 and partial monosomy 9p. 38
20162869 2009
195
Frontobasal suture distraction corrects hypotelorism in metopic synostosis. 38
19165007 2009
196
CD96 interaction with CD155 via its first Ig-like domain is modulated by alternative splicing or mutations in distal Ig-like domains. 38
19056733 2009
197
Complications in the surgical treatment of craniosynostosis and craniofacial syndromes: apropos of 306 transcranial procedures. 38
18769932 2008
198
Surgical treatment of isolated and syndromic craniosynostosis. Results and complications in 283 consecutive cases. 38
19112545 2008
199
Okamoto syndrome in a girl of Caucasian origin. 38
19046188 2008
200
Submicroscopic deletions of 11q24-25 in individuals without Jacobsen syndrome: re-examination of the critical region by high-resolution array-CGH. 38
19000322 2008
201
Growth of the orbit after frontoorbital advancement using nonrigid suture vs rigid plate fixation technique. 38
18970943 2008
202
Longitudinal assessment of visual development in non-syndromic craniosynostosis: a 1-year pre- and post-surgical study. 38
18463123 2008
203
Cardiac arrest secondary to long QT(C )in a child with propionic acidemia. 38
18058159 2008
204
Dysmorphic features, simplified gyral pattern and 7q11.23 duplication reciprocal to the Williams-Beuren deletion. 38
18337728 2008
205
Detailed characterization of, and clinical correlations in, 10 patients with distal deletions of chromosome 9p. 38
18641517 2008
206
New severity indices for quantifying single-suture metopic craniosynostosis. 38
18797362 2008
207
Mosaic 22q11.2 microdeletion syndrome: diagnosis and clinical manifestations of two cases. 38
18691436 2008
208
Clinical and cytogenetic characterization of 13 Dutch patients with deletion 9p syndrome: Delineation of the critical region for a consensus phenotype. 38
18452192 2008
209
Morphometric analysis of untreated adult skulls in syndromic and nonsyndromic craniosynostosis. 38
17992550 2008
210
Trigonocephaly and valproate: a case report and review of literature. 38
18264949 2008
211
Clinical and genetic spectrum of Sanfilippo type C (MPS IIIC) disease in The Netherlands. 38
18024218 2008
212
Bitemporal depressions after cranioplasty for trigonocephaly: a long-term evaluation of (supra) orbital growth in 92 patients. 38
18216668 2008
213
Effective correction of frontal cranial deformities using biodegradable fixation on the inner surface of the cranial bones during infancy. 38
17901962 2007
214
Non-syndromic trigonocephaly: surgical decision making and long-term cosmetic results. 38
17569057 2007
215
Infantile high myopia in Bohring-Opitz syndrome. 38
17498985 2007
216
Visual function in infants with non-syndromic craniosynostosis. 38
17635200 2007
217
Maximizing results in craniofacial surgery with bioresorbable fixation devices. 38
17667688 2007
218
[Skull plasty to correct congenital craniosynostosis]. 38
17926845 2007
219
Antenatal diagnosis of deletion chromosome 11(q23-qter) (Jacobsen syndrome). 38
17551332 2007
220
Syndromes and disorders associated with omphalocele (III): single gene disorders, neural tube defects, diaphragmatic defects and others. 38
17638618 2007
221
Mutational analysis of the HGSNAT gene in Italian patients with mucopolysaccharidosis IIIC (Sanfilippo C syndrome). Mutation in brief #959. Online. 38
17397050 2007
222
Interdisciplinary rehabilitation of a patient with Opitz C-syndrome and extensive craniofacial malformation. 38
17414277 2007
223
Spring-assisted correction of hypotelorism in metopic synostosis. 38
17312504 2007
224
[Endoscopically assisted fronto-orbitary correction in trigonocephaly]. 38
17489491 2007
225
A new chromosome anomaly in a patient with apparent C (trigonocephaly) syndrome. 38
17163545 2007
226
Sinus pericranii associated with craniosynostosis. 38
17251841 2007
227
Mutations in TMEM76* cause mucopolysaccharidosis IIIC (Sanfilippo C syndrome). 38
17033958 2006
228
Trigonocephaly in Muenke syndrome. 38
17036334 2006
229
Jacobsen syndrome and Beckwith-Wiedemann syndrome caused by a parental pericentric inversion inv(11)(p15q24). 38
17044870 2006
230
Aesthetic results of fronto-orbital correction in trigonocephaly. 38
17119424 2006
231
Behavioral, developmental, and educational problems in children with nonsyndromic trigonocephaly. 38
17328262 2006
232
Craniofacial surgery for orbital malformations. 38
17019423 2006
233
Simulation of surgery for craniosynostosis: a training model in a fresh cadaveric sheep cranium. Technical note. 38
16922078 2006
234
Further evidence of association between mutations in FGFR2 and syndromic craniosynostosis with sacrococcygeal eversion. 38
16955501 2006
235
A new syndrome with growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate. 38
16760738 2006
236
Mortality and pathological findings in C (Opitz trigonocephaly) syndrome. 38
17162528 2006
237
Trigonocephaly in a boy with paternally inherited deletion 22q11.2 syndrome. 38
16691595 2006
238
Interstitial 9q22.3 microdeletion: clinical and molecular characterisation of a newly recognised overgrowth syndrome. 38
16570072 2006
239
Congenital metopic craniosynostosis with secondary trigonocephaly: a case report. 38
16703161 2006
240
Association of a sylvian arachnoid cyst and trigonocephaly in a developing child: importance and management. 38
16254737 2006
241
Trigonocephaly: surgical considerations and long term evaluation. 38
16770193 2006
242
Narrowing candidate region for monosomy 9p syndrome to a 4.7-Mb segment at 9p22.2-p23. 38
16419130 2006
243
Partial trisomy 1p (1p36.22-->pter) and partial monosomy 9p (9p22.2-->pter) associated with achalasia, flexion deformity of the fingers and epilepsy in a girl. 38
17100198 2006
244
Early surgical treatment of nonsyndromic craniosynostosis. 38
16427442 2006
245
Genetic considerations in nonsyndromic midline craniosynostoses: a study of twins and their families. 38
16270687 2005
246
Six cases of deletion 9p24 and trisomy 19q13.4 inherited from a familial balanced translocation. 38
16091833 2005
247
Trigonocephaly and Wilson's disease in two siblings. 38
15930910 2005
248
Molecular screening for microdeletions at 9p22-p24 and 11q23-q24 in a large cohort of patients with trigonocephaly. 38
15857417 2005
249
Double trouble: knotted urethral catheter in a child with trigonocephaly. 38
15915125 2005
250
Deletion 9q34.3 syndrome: genotype-phenotype correlations and an extended deletion in a patient with features of Opitz C trigonocephaly. 38
15805160 2005
251
Craniofacial abnormalities in twins at tygerberg hospital, craniofacial unit. 38
15699669 2005
252
Opitz "C" trigonocephaly-like syndrome in a patient with terminal deletion of 2p and partial duplication of 17q. 38
15540175 2004
253
A dysmorphic boy with 4qter deletion and 4q32.3-34.3 duplication: clinical, cytogenetic, and molecular findings. 38
15523640 2004
254
A case of Kabuki (Niikawa-Kuroki) syndrome associated with manifestations resembling C-trigonocephaly syndrome. 38
15389716 2004
255
Mild trigonocephaly and intracranial pressure: report of 56 patients. 38
15185114 2004
256
[The correction of fronto-orbital deformity in infant craniosynostosis--a one year experience]. 38
15623098 2004
257
Sinus pericranii involving the torcular sinus in a patient with Hunter's syndrome and trigonocephaly: case report and review of the literature. 38
15314824 2004
258
Partial trisomy 13 with features similar to C syndrome. 38
15235171 2004
259
Opitz trigonocephaly C syndrome associated with hearing loss. 38
14651551 2003
260
Predicting the risk of reoperation in metopic synostosis: a quantitative CT scan analysis. 38
12897520 2003
261
Managing occupational risks for hepatitis C transmission in the health care setting. 38
12857782 2003
262
Clinical and genetic aspects of trigonocephaly: a study of 25 cases. 38
12567409 2003
263
A new technique for correction of trigonocephaly using bioabsorbable osteofixation tacks and plates and a novel tack-shooter. 38
12544229 2003
264
Del (9p) syndrome: report of four cases. 38
12800387 2003
265
Surgical treatment of trigonocephalies and associated hypoteleorbitism. 38
12529772 2002
266
Prenatal diagnosis of partial trisomy 3p and partial monosomy 11q in a fetus with a Dandy-Walker variant and trigonocephaly. 38
12454968 2002
267
Mild trigonocephaly with clinical symptoms. 38
12483347 2002
268
[Deletion 11q23 --> qter (Jacobsen Syndrome) associated with duodenal atresia and annular pancreas]. 38
12199949 2002
269
Mild trigonocephaly with clinical symptoms: analysis of surgical results in 65 patients. 38
12042920 2002
270
Minor form of trigonocephaly is an autistic skull shape? A suggestion based on homeobox gene variants and MECP2 mutations. 38
12027529 2002
271
Cranial remodeling to treat craniosynostosis by gradual distraction using a new device. 38
11990803 2002
272
Ultrasound diagnosis of craniosynostosis. 38
11772173 2002
273
Small terminal 10q26 deletion in a male patient with Noonan-like stigmata: diagnosis by cytogenetic and FISH analysis. 38
12558112 2002
274
Isolated craniosynostosis: prenatal ultrasound of scaphocephaly with polyhydramnios. 38
11858399 2001
275
[Metopic craniosynostosis, probable effect of intrauterine exposure to maternal valproate treatment]. 38
11811028 2001
276
Craniosynostosis and fetal exposure to sodium valproate. 38
11702867 2001
277
On the assets of CAD planning for craniosynostosis surgery. 38
11711821 2001
278
[Cranioplasty for isolated trigonocephaly with developmental disorder]. 38
11725515 2001
279
Preliminary observations on the association between simple metopic ridging in children without trigonocephaly and the Chiari I malformation. 38
11641622 2001
280
[Metopic suture craniosynostosis: sodium valproate teratogenic effect. Case report]. 38
11460190 2001
281
Episphalosomic syndrome : a MCA syndrome ressembling Fanconi anemia, with increased baseline level of chromosome breaks but no hypersensivity to clastogens. 38
11522241 2001
282
Frontoethmoidal encephaloceles: reconstruction and refinements. 38
11314190 2001
283
[C syndrome]. 38
11462451 2001
284
A new association of congenital hydrocephalus, albinism, megalocornea, and retinal coloboma in a syndromic child: a clinical and genetic study. 38
11135491 2000
285
Trigonocephaly in rabbits with familial interfrontal suture synostosis: the multiple effects of premature single-suture fusion. 38
11066035 2000
286
[Metotopic craniosynostoses]. 38
11109361 2000
287
A new technique for correction of trigonocephaly in an infant: application of an absorbable endocranial plate. 38
11048635 2000
288
Fronto-ocular syndrome: newly recognized trigonocephaly syndrome. 38
10869108 2000
289
Opitz trigonocephaly (C)-like syndrome, or Bohring-Opitz syndrome: another example. 38
10861668 2000
290
Severe end of Opitz trigonocephaly C syndrome. 38
10861669 2000
291
The tetraspanin CD63/lamp3 cycles between endocytic and secretory compartments in human endothelial cells. 38
10793155 2000
292
Evaluation of a surgical technique for trigonocephaly. 38
10756574 2000
293
[Trigonocephaly]. 38
11043325 2000
294
[Retinitis pigmentosa, terminal renal insufficiency and Caroli syndrome: new associations with Opitz trigonocephaly syndrome]. 38
10719681 2000
295
A case with 47,XXY,del(11)(q23) karotype-coexistence of Jacobsen and Klinefelter syndromes. 38
11043435 2000
296
Blepharophimosis, minor facial anomalies, genital anomalies, and mental retardation: report of two sibs with a unique syndrome. 38
10528253 1999
297
Chromosome breakage hotspots and delineation of the critical region for the 9p-deletion syndrome. 38
10521304 1999
298
Ring chromosome 9 with a 9p22.3-p24.3 duplication. 38
10486077 1999
299
Fibroblast growth factor receptor mutational screening in newborns affected by metopic synostosis. 38
10447608 1999
300
Functional outcome after surgery for trigonocephaly. 38
10654710 1999
301
Analysis and treatment of severe trigonocephaly. 38
9950522 1999
302
A new combination: short stature, congenital unilateral absence of the fibula, oligodactyly and trigonocephaly. 38
10327255 1999
303
11q- syndrome: three cases and a review of the literature. 38
10546104 1999
304
[Cytarabine-induced pericarditis]. 38
9866424 1998
305
Functional outcome after surgery for trigonocephaly. 38
9734408 1998
306
[Trigonocephaly: isolated, associated and syndromic forms. Genetic study in a series of 278 patients]. 38
9759293 1998
307
[Long-term outcome after corrective surgery of the neuro- and viscerocranium of patients with simple and syndrome-related premature craniosynostosis]. 38
9658819 1998
308
[Long-term results after corrective operations on the neuro- and viscero-cranium of patients with isolated and syndrome-related premature craniosynostosis]. 38
23526013 1998
309
Surgical correction of trigonocephaly: theoretical basis and operative procedures. 38
9557540 1998
310
Changing phenotype in Floating-Harbor syndrome. 38
9508066 1998
311
Syndromal and nonsyndromal primary trigonocephaly: analysis of a series of 237 patients. 38
9450889 1998
312
Opitz C trigonocephaly syndrome and midline brain anomalies. 38
9415479 1997
313
Partial 9p monosomy in a girl with a tdic(9p23;13p11) translocation, minor anomalies, obesity, and mental retardation. 38
9217211 1997
314
[Mental prognosis of trigonocephaly and therapeutic implications]. 38
9768122 1997
315
[A familial case of trigonocephaly]. 38
9424957 1997
316
Polysyndactyly and trigonocephaly with partial agenesis of corpus callosum: an example of the variable clinical spectrum of the Acrocallosal syndrome? 38
9220202 1997
317
Reciprocal translocation 4;11 with both adjacent-1 segregants viable within a family. 38
9184247 1997
318
[The interdisciplinary approach and early surgery in the trigonocephaly]. 38
9198735 1997
319
Another Arab patient with overlap of Váradi-Papp/Opitz trigonocephaly syndromes? 38
8986276 1997
320
Differences in the nonreducing ends of heparan sulfates excreted by patients with mucopolysaccharidoses revealed by bacterial heparitinases: a new tool for structural studies and differential diagnosis of Sanfilippo's and Hunter's syndromes. 38
8973472 1996
321
Consensus: trigonocephaly. 38
9118128 1996
322
Ocular findings in children operated on for plagiocephaly and trigonocephaly. 38
9118131 1996
323
Metopic synostosis: in favour of a "simplified" surgical treatment. 38
9118127 1996
324
Procedure of lateral canthal advancement for the treatment of coronal synostosis. 38
9118130 1996
325
Jacobsen syndrome: report of a patient with severe eye anomalies, growth hormone deficiency, and hypothyroidism associated with deletion 11 (q23q25) and review of 52 cases. 38
8880580 1996
326
Step expansion of the frontal bar: correction of trigonocephaly. 38
9133843 1996
327
Previously apparently undescribed syndrome: shallow orbits, ptosis, coloboma, trigonocephaly, gyral malformations, and mental and growth retardation. 38
8862633 1996
328
The role of bone centers in the pathogenesis of craniosynostosis: an embryologic approach using CT measurements in isolated craniosynostosis and Apert and Crouzon syndromes. 38
8657773 1996
329
Polysyndactyly and trigonocephaly with partial agenesis of corpus callosum. 38
8723570 1996
330
Coronal suture transplantation to correct fronto-orbital constriction in metopic synostosis. 38
8912096 1996
331
Trigonocephaly-associated hypotelorism: is treatment necessary? 38
8596780 1996
332
Malformative syndrome with trigonocephaly, shallow orbits, ptosis, growth and mental retardation. De novo autosomal reciprocal t(9;13)(Q32;Q22) in a male patient. 38
9297446 1996
333
Two craniosynostotic patients with 11q deletions, and review of 48 cases. 38
8588585 1995
334
Mid-portion agenesis of corpus callosum in a presumed Baller-Gerold syndrome. 38
8552221 1995
335
Trigonocephaly associated with anterior basal meningocele. Case report. 38
8965126 1995
336
Previously apparently undescribed syndrome: shallow orbits, ptosis, coloboma, trigonocephaly, gyral malformations, and mental and growth retardation. 38
7545868 1995
337
Evaluation of the effect of early mobilization of the supraorbital bar on the frontal sinus and frontal growth. 38
7708863 1995
338
Clinical and molecular characterization of patients with distal 11q deletions. 38
7887422 1995
339
Ocular findings in trigonocephaly. 38
7890186 1994
340
Varadi syndrome or Opitz trigonocephaly: overlapping manifestation in two cousins. 38
7802045 1994
341
[Treacher-Collin's syndrome and translaryngeal guided intubation--case report]. 38
7921870 1994
342
FISH diagnosis of partial trisomy 13 and tetrasomy 13 in a patient with severe trigonocephaly (C) phenotype. 38
7977471 1994
343
Phenotypic variability in the Baller-Gerold syndrome: report of a mildly affected patient and review of the literature. 38
7957363 1994
344
Brief communication: the skull attributed to Mozart--craniosynostosis or not? 38
8085616 1994
345
[Physiopathological approach and antenatal diagnosis of diabetes mellitus insulin resistant: apropos of a case with leprechaunism]. 38
7994336 1994
346
Cranial reshaping of rare concordant dizygotic twins with trigonocephaly. 38
8278474 1994
347
[Triangular skull. Apropos of trigonocephaly]. 38
7753291 1994
348
[Remodeling the cranial vault in anterior craniosynostoses. Our therapeutic experience of trigonocephaly and plagiocephaly]. 38
7753292 1994
349
9p-Syndrome. 38
8568717 1994
350
Metopic synostosis: quantitative assessment of presenting deformity and surgical results based on CT scans. 38
8278471 1994
351
Váradi syndrome (OFD VI) or Opitz trigonocephaly syndrome: overlapping manifestations in two cousins. 38
8256802 1993
352
Molecular and cytogenetic characterization of 9p- abnormalities. 38
8488873 1993
353
Balanced complex rearrangement involving chromosomes 8, 9, and 12 in a normal mother, derivative chromosome 9 with recombinant chromosome 12 in her daughter with minor anomalies. 38
8418663 1993
354
Prenatal diagnosis of deletion 11q23-->qter. Report of two unrelated cases. 38
8166431 1993
355
The 11q- syndrome with mosaic partial deletion of 11q. 38
1285504 1992
356
Saethre-Chotzen syndrome with trigonocephaly. 38
1481819 1992
357
C syndrome and omphalocele: another example. 38
1362631 1992
358
Trigonocephaly. 38
1290788 1992
359
[No, Mozart was not trigonocephalic]. 38
1296510 1992
360
[Opitz-trigonocephaly syndrome--a characteristic dysmorphia-retardation syndrome of unclear origin]. 38
1614184 1992
361
Deletion 11q23-->qter (Jacobsen syndrome). Report of three new patients. 38
1296516 1992
362
Orbital teratoma associated with trigonocephaly. 38
1946758 1991
363
[Opitz' trigonocephaly syndrome]. 38
1758140 1991
364
Advancement-onlay: an improved technique of fronto-orbital remodeling in craniosynostosis. 38
1933927 1991
365
Steady-state lumbar infusion tests in the management of children with craniosynostosis. 38
2054805 1991
366
Short clinical report: a new case with de novo partial 9p monosomy. 38
1790023 1991
367
Skull base in trigonocephaly. 38
1822130 1991
368
Calvarial sutural abnormalities: metopic synostosis and coronal deformation--an anatomic, three-dimensional radiographic, and pathologic study. 38
2243848 1990
369
Autosomal dominant craniosynostosis of the sutura metopica. 38
2282717 1990
370
Trigonocephaly: clinical and cephalometric assessment of craniofacial morphology in operated and nontreated patients. 38
2253382 1990
371
Modifications in the surgical correction of trigonocephaly. 38
2349291 1990
372
Long-term follow-up on a case of untreated trigonocephaly. 38
2302819 1990
373
Histologic evaluation of the coronal sutures in trigonocephaly. 38
2088559 1990
374
Partial deletion of the long arm of chromosome 11 [del(11)(q23.3----qter)] with abnormal white matter. 38
2301470 1990
375
Agenesis of corpus callosum associated with double urinary collecting system, trigonocephaly and other minor anomalies: a new association. 38
2792139 1989
376
Familial type C syndrome of insulin resistance and short stature with possible autosomal dominant transmission. 38
2684618 1989
377
[Diagnosis and treatment of craniosynostoses: the usefulness of CT combined with 3-dimensional reconstruction]. 38
2727335 1989
378
[Preliminary results of biodegradable osteosynthesis in craniofacial surgery in the child]. 38
2630118 1989
379
Pseudoaprosencephaly: Aplasia of the Forebrain in a Median Facial Cleft Syndrome with Arhinia and Anophthalmia. 38
28614610 1988
380
[A case of 9p partial monosomy caused by paternal translocation. Clinical and cytogenetic aspects]. 38
3241758 1988
381
Distal 11q deletion: a specific clinical entity. 38
3692885 1987
382
[Three cases of trigonocephaly associated with trisomy 13]. 38
3663410 1987
383
[Ophthalmologic findings in 11 q-deletion syndrome]. 38
3626412 1987
384
Terminal deletion of the short arm of chromosome 3, del(3pter-p25): a recognizable syndrome. 38
3443553 1987
385
Trigonocephaly (metopic synostosis). Clinical, surgical and anatomical concepts. 38
3427566 1987
386
[Clinical picture of partial monosomy of chromosome 11 q]. 38
3807920 1986
387
[A family of hereditary communicating hydrocephalus with trigonocephaly]. 38
3790356 1986
388
[Early radical operation of trigonocephaly in infancy--pathophysiological concepts and operative procedure of premature closure of the metopic suture]. 38
3774097 1986
389
Surgical approaches for the correction of metopic synostosis. 38
3748350 1986
390
Diagnosis of chromosome 3 duplication q23----qter, deletion p25----pter in a patient with the C (trigonocephaly) syndrome. 38
3515940 1986
391
Management of trigonocephaly. 38
3941985 1986
392
Ara-C syndrome during low-dose continuous infusion therapy. 38
3784982 1986
393
Surgical treatment of trigonocephaly. Experience with 30 cases. 38
3791279 1986
394
[Surgical treatment of trigonocephaly. Apropos of 30 surgically treated cases]. 38
2425704 1986
395
[Ophthalmologic complications of craniofacial stenoses. Apropos of 244 cases]. 38
3584828 1986
396
Mental retardation with pterygia, shortness and distinct facial appearance. A new MCA/MR syndrome. 38
4075567 1985
397
Trigonocephaly: refinements in reconstruction. Experience with 33 patients. 38
4023093 1985
398
Opitz trigonocephaly syndrome and terminal transverse limb reduction defects. 38
3830973 1985
399
Sanfilippo type C syndrome in two sisters. 38
3920864 1985
400
De novo partial 2q3 trisomy/distal 7p22 monosomy in a malformed newborn with 7p deletion phenotype and craniosynostosis. 38
3874588 1985
401
The incidence of isolated craniosynostosis in the newborn infant. 38
3969991 1985
402
New anomalies found in the 11q-syndrome. 38
6499268 1984
403
Trigonocephaly: a new familial syndrome. 38
6741996 1984
404
[De novo appearance of a partial trisomy 1q in mosaic due to a 1;9 translocation]. 38
6609670 1984
405
Brief clinical report: two children with de novo del(9p). 38
6846405 1983
406
The first case of the Sanfilippo type C syndrome in Scandinavia. 38
6404127 1983
407
An additional case of 9p syndrome. 38
6680318 1983
408
Cranioplasty for premature metopic suture closure (trigonocephaly). 38
7072551 1982
409
[Mental evolution of 108 cases with craniosynostosis (author's transl)]. 38
7332145 1981
410
Uncomplicated trigonocephaly. A radiographic affirmation of conservative therapy. 38
7280235 1981
411
Familial trigonocephaly associated with short stature and developmental delay. 38
6168197 1981
412
Sanfilippo syndrome type C: assay for acetyl-CoA: alpha-glucosaminide N-acetyltransferase in leukocytes for detection of homozygous and heterozygous individuals. 38
6794963 1981
413
The diagnosis of the Sanfilippo C syndrome, using monosaccharide and oligosaccharide substrates to assay acetyl-CoA: 2-amino-2-deoxy-alpha-glucoside N-acetyltransferase activity. 38
6786804 1981
414
A recognizable phenotype in a child with partial duplication 13q in a family with t(10q;13q). 38
7471511 1981
415
Cranio-facial surgery for cranio-synostosis. 38
7347010 1981
416
Partial monosomy of the long arm of chromosome 11 in a severely affected child. 38
6971620 1981
417
Craniofacial growth in premature craniofacial synostosis. 38
7347001 1981
418
[Compatibility between primary cranial surgery and secondary cranio-facial surgery (author's transl)]. 38
7279090 1981
419
The cytosine arabinoside (Ara-C) syndrome. 38
6941069 1981
420
Partial trisomy 1 (q42 leads to ter). 38
7460373 1980
421
Trigonocephaly: some clinical and surgical features. 38
7457083 1980
422
A 3H-labelled trisaccharide from heparin as substrate for acetyl-CoA: 2-amino-2-deoxy-alpha-D-glucoside N-acetyltransferase. 38
6766355 1980
423
Brachydactyly C, short stature, and hip dysplasia. 38
391043 1979
424
Ring chromosome 13 in a child with minor dysmorphic features. Irregular phenotypic expression of ring 13 syndrome. 38
717293 1978
425
Partial monosomy of the short arm of chromosome 9: a distinct clinical entity. 38
730163 1978
426
A case of partial 9p monosomy with some unusual clinical features. 38
308344 1978
427
[Rudiger (E. E. C.) syndrome: report of a case associated with atopic dermatitis (author's transl)]. 38
677688 1978
428
[Trigonocephaly. Results of a new surgical technic]. 38
339051 1977
429
Persistent fetal circulation: an evolving clinical and radiographic concept of pulmonary hypertension of the newborn. 38
896354 1977
430
[Partial trisomy 13 due to maternal translocation t(2;13)]. 38
304705 1977
431
Autosomal dominant trigonocephaly. 38
926144 1977
432
Trigonocephaly and the 11q- syndrome. 38
302679 1977
433
[Partial monosomy 11q. A new case]. 38
302678 1977
434
A method in surgical treatment of premature closure of metopic suture (trigonocephaly). 38
1031872 1976
435
A new case of trisomy for the distal part of 13q due to maternal translocation, t(9;13)(p21;q21). 38
964983 1976
436
[Partial deletion of the short arm of the chromosome 9]. 38
1085605 1976
437
Trisomy 13 in a female over 5 years of age. 38
933114 1976
438
The 9p- syndrome. 38
1084115 1976
439
Trigonocephaly and associated minor anomalies in mother and son. 38
1271432 1976
440
Chromosome 11 long arm partial deletion: a new syndrome. 38
1247044 1976
441
[Partial 11q monosomy and trigonocephaly. A new syndrome]. 38
1083197 1975
442
The C syndrome. 38
1227575 1975
443
Del (10)p autosomal deletion syndrome: clinical, cytogenetic and gene marker studies. 38
1150232 1975
444
[Congenital trigonocephaly in a neonate born of a diabetic mother]. 38
4643242 1972
445
[Trigonocephaly]. 38
5299202 1966
446
CLOSED METOPIC SUTURE WITH TRIGONOCEPHALY IN DOWN'S SYNDROME. 38
14315300 1965
447
Trigonocephaly. Identity and surgical treatment. 38
13861226 1962
448
Orbital hypotelorism, arhinencephaly, and trigonocephaly. 38
13813361 1960
449
Trigonocephaly. 38
13441914 1957

Variations for C Syndrome

ClinVar genetic disease variations for C Syndrome:

6 (showing 83, show less)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 CD96 CD96, EXONIC BREAKPOINT undetermined variant Pathogenic
2 CD96 NM_198196.3(CD96): c.839C> T (p.Thr280Met) single nucleotide variant Pathogenic rs119477056 3:111304209-111304209 3:111585362-111585362
3 CD96 NM_198196.3(CD96): c.54dup (p.Val19fs) duplication Uncertain significance rs200703204 3:111261149-111261149 3:111542302-111542302
4 CD96 NM_198196.2(CD96): c.-115G> A single nucleotide variant Uncertain significance rs886057763 3:111260981-111260981 3:111542134-111542134
5 CD96 NM_198196.3(CD96): c.983A> G (p.Asp328Gly) single nucleotide variant Uncertain significance rs886057765 3:111319609-111319609 3:111600762-111600762
6 CD96 NM_198196.3(CD96): c.*143C> A single nucleotide variant Uncertain significance rs886057769 3:111368796-111368796 3:111649949-111649949
7 CD96 NM_198196.3(CD96): c.*172G> T single nucleotide variant Uncertain significance rs886057770 3:111368825-111368825 3:111649978-111649978
8 CD96 NM_198196.3(CD96): c.*841G> C single nucleotide variant Uncertain significance rs886057775 3:111369494-111369494 3:111650647-111650647
9 CD96 NM_198196.3(CD96): c.*1155C> A single nucleotide variant Uncertain significance rs886057778 3:111369808-111369808 3:111650961-111650961
10 CD96 NM_198196.3(CD96): c.*1437A> G single nucleotide variant Uncertain significance rs886057780 3:111370090-111370090 3:111651243-111651243
11 CD96 NM_198196.3(CD96): c.1292C> T (p.Pro431Leu) single nucleotide variant Uncertain significance rs886057766 3:111342664-111342664 3:111623817-111623817
12 CD96 NM_198196.3(CD96): c.*1843G> A single nucleotide variant Uncertain significance rs886057781 3:111370496-111370496 3:111651649-111651649
13 CD96 NM_198196.3(CD96): c.*2090A> G single nucleotide variant Uncertain significance rs868287764 3:111370743-111370743 3:111651896-111651896
14 CD96 NM_198196.3(CD96): c.*2092_*2093insGAAAGAA insertion Uncertain significance rs557338377 3:111370745-111370746 3:111651898-111651899
15 CD96 NM_198196.3(CD96): c.*2269G> T single nucleotide variant Uncertain significance rs532593762 3:111370922-111370922 3:111652075-111652075
16 CD96 NM_198196.2(CD96): c.-117G> A single nucleotide variant Uncertain significance rs886057762 3:111260979-111260979 3:111542132-111542132
17 CD96 NM_198196.3(CD96): c.584G> A (p.Gly195Asp) single nucleotide variant Uncertain significance rs774695561 3:111296389-111296389 3:111577542-111577542
18 CD96 NM_198196.3(CD96): c.1385C> T (p.Pro462Leu) single nucleotide variant Uncertain significance rs886057767 3:111356058-111356058 3:111637211-111637211
19 CD96 NM_198196.3(CD96): c.1504A> C (p.Thr502Pro) single nucleotide variant Uncertain significance rs886057768 3:111356994-111356994 3:111638147-111638147
20 CD96 NM_198196.3(CD96): c.*844A> G single nucleotide variant Uncertain significance rs886057776 3:111369497-111369497 3:111650650-111650650
21 CD96 NM_198196.3(CD96): c.*1183T> A single nucleotide variant Uncertain significance rs886057779 3:111369836-111369836 3:111650989-111650989
22 CD96 NM_198196.3(CD96): c.*1196G> C single nucleotide variant Uncertain significance rs534012574 3:111369849-111369849 3:111651002-111651002
23 CD96 NM_198196.3(CD96): c.*1364G> A single nucleotide variant Uncertain significance rs368097665 3:111370017-111370017 3:111651170-111651170
24 CD96 NM_198196.3(CD96): c.*1801G> A single nucleotide variant Uncertain significance rs750171040 3:111370454-111370454 3:111651607-111651607
25 CD96 NM_198196.3(CD96): c.*1815G> T single nucleotide variant Uncertain significance rs146712540 3:111370468-111370468 3:111651621-111651621
26 CD96 NM_198196.3(CD96): c.*2064C> T single nucleotide variant Uncertain significance rs369682226 3:111370717-111370717 3:111651870-111651870
27 CD96 NM_198196.3(CD96): c.*2094del deletion Uncertain significance rs886057786 3:111370747-111370747 3:111651900-111651900
28 CD96 NM_198196.3(CD96): c.*2380C> A single nucleotide variant Uncertain significance rs80033730 3:111371033-111371033 3:111652186-111652186
29 CD96 NM_198196.3(CD96): c.902T> C (p.Ile301Thr) single nucleotide variant Uncertain significance rs781311611 3:111317013-111317013 3:111598166-111598166
30 CD96 NM_198196.3(CD96): c.939A> G (p.Glu313=) single nucleotide variant Uncertain significance rs886057764 3:111317050-111317050 3:111598203-111598203
31 CD96 NM_198196.3(CD96): c.1264G> T (p.Val422Leu) single nucleotide variant Uncertain significance rs200767318 3:111342636-111342636 3:111623789-111623789
32 CD96 NM_198196.3(CD96): c.1670T> G (p.Phe557Cys) single nucleotide variant Uncertain significance rs760873204 3:111368565-111368565 3:111649718-111649718
33 CD96 NM_198196.3(CD96): c.*807A> G single nucleotide variant Uncertain significance rs886057773 3:111369460-111369460 3:111650613-111650613
34 CD96 NM_198196.3(CD96): c.*910A> T single nucleotide variant Uncertain significance rs886057777 3:111369563-111369563 3:111650716-111650716
35 CD96 NM_198196.3(CD96): c.270T> C (p.Thr90=) single nucleotide variant Uncertain significance rs751624723 3:111264101-111264101 3:111545254-111545254
36 CD96 NM_198196.3(CD96): c.419-13T> C single nucleotide variant Uncertain significance rs772265929 3:111286357-111286357 3:111567510-111567510
37 CD96 NM_198196.3(CD96): c.*2076del deletion Uncertain significance rs886057782 3:111370729-111370729 3:111651882-111651882
38 CD96 NM_198196.3(CD96): c.*2514T> G single nucleotide variant Uncertain significance rs886057787 3:111371167-111371167 3:111652320-111652320
39 CD96 NM_198196.3(CD96): c.*191G> A single nucleotide variant Uncertain significance rs886057771 3:111368844-111368844 3:111649997-111649997
40 CD96 NM_198196.3(CD96): c.*680C> G single nucleotide variant Uncertain significance rs886057772 3:111369333-111369333 3:111650486-111650486
41 CD96 NM_198196.3(CD96): c.*824A> T single nucleotide variant Uncertain significance rs886057774 3:111369477-111369477 3:111650630-111650630
42 CD96 NM_198196.3(CD96): c.*2092_*2093insGAA insertion Uncertain significance rs557338377 3:111370745-111370746 3:111651898-111651899
43 CD96 NM_198196.3(CD96): c.*2093_*2097del deletion Uncertain significance rs771511889 3:111370746-111370750 3:111651899-111651903
44 CD96 NM_198196.3(CD96): c.*819C> T single nucleotide variant Likely benign rs570063384 3:111369472-111369472 3:111650625-111650625
45 CD96 NM_198196.3(CD96): c.*1803G> A single nucleotide variant Likely benign rs184317872 3:111370456-111370456 3:111651609-111651609
46 CD96 NM_198196.3(CD96): c.*869G> C single nucleotide variant Likely benign rs566078679 3:111369522-111369522 3:111650675-111650675
47 CD96 NM_198196.3(CD96): c.*713C> T single nucleotide variant Likely benign rs550055490 3:111369366-111369366 3:111650519-111650519
48 CD96 NM_198196.3(CD96): c.*396C> T single nucleotide variant Likely benign rs543716163 3:111369049-111369049 3:111650202-111650202
49 CD96 NM_198196.3(CD96): c.*531A> G single nucleotide variant Likely benign rs35846778 3:111369184-111369184 3:111650337-111650337
50 CD96 NM_198196.3(CD96): c.*671T> C single nucleotide variant Likely benign rs533117549 3:111369324-111369324 3:111650477-111650477
51 CD96 NM_198196.3(CD96): c.728G> A (p.Arg243Gln) single nucleotide variant Likely benign rs143049331 3:111298010-111298010 3:111579163-111579163
52 CD96 NM_198196.3(CD96): c.840G> A (p.Thr280=) single nucleotide variant Likely benign rs139540088 3:111304210-111304210 3:111585363-111585363
53 CD96 NM_198196.3(CD96): c.1018G> A (p.Val340Ile) single nucleotide variant Likely benign rs149013704 3:111319644-111319644 3:111600797-111600797
54 CD96 NM_198196.3(CD96): c.1299C> A (p.Pro433=) single nucleotide variant Likely benign rs76343124 3:111343181-111343181 3:111624334-111624334
55 CD96 NM_198196.3(CD96): c.1419A> G (p.Ala473=) single nucleotide variant Likely benign rs34636484 3:111356092-111356092 3:111637245-111637245
56 CD96 NM_198196.3(CD96): c.181G> A (p.Val61Ile) single nucleotide variant Likely benign rs150450686 3:111264012-111264012 3:111545165-111545165
57 CD96 NM_198196.3(CD96): c.901A> G (p.Ile301Val) single nucleotide variant Likely benign rs770945585 3:111317012-111317012 3:111598165-111598165
58 CD96 NM_198196.3(CD96): c.*1799G> A single nucleotide variant Likely benign rs535247425 3:111370452-111370452 3:111651605-111651605
59 CD96 NM_198196.3(CD96): c.*1873G> A single nucleotide variant Likely benign rs182012014 3:111370526-111370526 3:111651679-111651679
60 CD96 NM_198196.3(CD96): c.*125G> A single nucleotide variant Likely benign rs116117825 3:111368778-111368778 3:111649931-111649931
61 CD96 NM_198196.3(CD96): c.177C> A (p.Ser59=) single nucleotide variant Likely benign rs145133367 3:111264008-111264008 3:111545161-111545161
62 CD96 NM_198196.3(CD96): c.1719C> T (p.Asn573=) single nucleotide variant Likely benign rs148525569 3:111368614-111368614 3:111649767-111649767
63 CD96 NM_198196.3(CD96): c.160G> A (p.Val54Met) single nucleotide variant Likely benign rs149258762 3:111263991-111263991 3:111545144-111545144
64 CD96 NM_198196.3(CD96): c.855+14A> C single nucleotide variant Likely benign rs144245769 3:111304239-111304239 3:111585392-111585392
65 CD96 NM_198196.3(CD96): c.-51A> G single nucleotide variant Likely benign rs370450188 3:111261045-111261045 3:111542198-111542198
66 CD96 NM_198196.3(CD96): c.1295A> T (p.Gln432Leu) single nucleotide variant Likely benign rs148659928 3:111342667-111342667 3:111623820-111623820
67 CD96 NM_198196.3(CD96): c.1499C> T (p.Thr500Met) single nucleotide variant Likely benign rs140955483 3:111356989-111356989 3:111638142-111638142
68 CD96 NM_198196.3(CD96): c.*1815G> A single nucleotide variant Likely benign rs146712540 3:111370468-111370468 3:111651621-111651621
69 CD96 NM_198196.3(CD96): c.1214G> A (p.Ser405Asn) single nucleotide variant Likely benign rs138396447 3:111325625-111325625 3:111606778-111606778
70 CD96 NM_198196.3(CD96): c.1229-1G> A single nucleotide variant Likely benign rs77738677 3:111342600-111342600 3:111623753-111623753
71 CD96 NM_198196.3(CD96): c.626A> C (p.Gln209Pro) single nucleotide variant Likely benign rs61733706 3:111297908-111297908 3:111579061-111579061
72 CD96 NM_198196.3(CD96): c.634C> T (p.Leu212Phe) single nucleotide variant Likely benign rs149101142 3:111297916-111297916 3:111579069-111579069
73 CD96 NM_198196.3(CD96): c.424G> C (p.Ala142Pro) single nucleotide variant Benign rs2276872 3:111286375-111286375 3:111567528-111567528
74 CD96 NM_198196.2(CD96): c.-121C> T single nucleotide variant Benign rs2276873 3:111260975-111260975 3:111542128-111542128
75 CD96 NM_198196.3(CD96): c.1014A> G (p.Thr338=) single nucleotide variant Benign rs145863419 3:111319640-111319640 3:111600793-111600793
76 CD96 NM_198196.3(CD96): c.*1539G> T single nucleotide variant Benign rs6763322 3:111370192-111370192 3:111651345-111651345
77 CD96 NM_198196.3(CD96): c.1410G> C (p.Pro470=) single nucleotide variant Benign rs1533270 3:111356083-111356083 3:111637236-111637236
78 CD96 NM_198196.3(CD96): c.*2380C> T single nucleotide variant Benign rs80033730 3:111371033-111371033 3:111652186-111652186
79 CD96 NM_198196.3(CD96): c.*160C> T single nucleotide variant Benign rs3733176 3:111368813-111368813 3:111649966-111649966
80 CD96 NM_198196.3(CD96): c.*435C> T single nucleotide variant Benign rs73230153 3:111369088-111369088 3:111650241-111650241
81 CD96 NM_198196.3(CD96): c.*820A> G single nucleotide variant Benign rs6437999 3:111369473-111369473 3:111650626-111650626
82 CD96 NM_198196.3(CD96): c.*1553C> T single nucleotide variant Benign rs6763154 3:111370206-111370206 3:111651359-111651359
83 CD96 NM_198196.3(CD96): c.*2093del deletion Benign rs200341777 3:111370746-111370746 3:111651899-111651899

UniProtKB/Swiss-Prot genetic disease variations for C Syndrome:

74 (showing 1, show less)
# Symbol AA change Variation ID SNP ID
1 CD96 p.Thr280Met VAR_037578 rs119477056

Expression for C Syndrome

Search GEO for disease gene expression data for C Syndrome.

Pathways for C Syndrome

Pathways related to C Syndrome according to KEGG:

37 (showing 3, show less)
# Name Kegg Source Accession
1 MAPK signaling pathway hsa04010
2 Adherens junction hsa04520
3 Regulation of actin cytoskeleton hsa04810

GO Terms for C Syndrome

Biological processes related to C Syndrome according to GeneCards Suite gene sharing:

(showing 1, show less)
# Name GO ID Score Top Affiliating Genes
1 skeletal system morphogenesis GO:0048705 8.62 IFT140 FGFR1

Sources for C Syndrome

3 CDC
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10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
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34 ICD10 via Orphanet
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58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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