"C" trigonocephaly syndrome with diaphragmnatic hernia.
We report on a 6-year-old girl with C-trigonocephaly syndrome and diaphragmatic hernia. She is severely mentally retarded and shows the characteristic findings of this syndrome, including trigonocephaly, unusual facial features, especially intra-oral anomalies, low set and dysplastic ears, cardiac anomaly and neonatal hypotonia. Following our presentation at the 5th European meeting of dysmorphology in Strasbourg, P. Meinecke brought to our attention a case of C-trigonocephaly who died in the neonatal period from complications of a diaphragmatic hernia. Another case of C-trigonocephaly without diaphragmatic hernia was communicated to us by D. Lacombe. We report these three observations and present a review of 26 alleged cases.
Addor
M C
MC
Division of Medical Genetics, CHUV, Lausanne, Switzerland.
Stefanutti
D
D
Farron
F
F
Meinecke
P
P
Lacombe
D
D
Sarlangue
J
J
Prescia
G
G
Schorderet
D F
DF
D000015:Abnormalities, Multiple / Q000235:genetics*; D002648:Child; D005147:Facial Bones / Q000002:abnormalities*; D005260:Female; D005817:Genetic Counseling; D006548:Hernia, Diaphragmatic / Q000235:genetics*; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000235:genetics; D008297:Male; D010641:Phenotype; D012307:Risk Factors; D012886:Skull / Q000002:abnormalities*; D013577:Syndrome