Article: article from journal or magazin.
Case report (case report): feedback on an observation with a short commentary.
"C" trigonocephaly syndrome with diaphragmnatic hernia.
Publication types: Case Reports ; Journal Article
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.
Abnormalities, Multiple, Child, Facial Bones, Female, Genetic Counseling, Hernia, Diaphragmatic, Humans, Infant, Infant, Newborn, Male, Mental Retardation, Phenotype, Risk Factors, Skull, Syndrome
Web of science
Last modification date