Article
Schinzel-Giedion syndrome: further delineation of the phenotype.
Clinical dysmorphology - 1 Apr 1996
Elliott A M, Meagher-Villemure K, Oudjhane K, der Kaloustian V M
Abstract excerpt
We describe a male infant with findings typical of Schinzel-Giedion syndrome. Characteristic features include: midface retraction, widely patent fontanelles, hirsutism, choanal stenosis, hypospadias with chordae, club feet and broad ribs. The patient suffered from seizures and died at 14 months o...
Topics
- Abnormalities, Multiple
- Clubfoot
- Face
- Fatal Outcome
- Hirsutism
- Humans
- Hypospadias
- Infant
- Male
- Phenotype
- Pneumonia
- Ribs
- Skull
- Syndrome