Article
"C" trigonocephaly syndrome with diaphragmnatic hernia.
Genetic counseling (Geneva, Switzerland) - 1 Jan 1995
Addor M C, Stefanutti D, Farron F, Meinecke P, Lacombe D, Sarlangue J, Prescia G, Schorderet D F
Abstract excerpt
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, cardia...
Topics
- Abnormalities, Multiple
- Child
- Facial Bones
- Female
- Genetic Counseling
- Hernia, Diaphragmatic
- Humans
- Infant
- Infant, Newborn
- Intellectual Disability
- Male
- Phenotype