Article
Schinzel-Giedion syndrome.
European journal of pediatrics - 1 May 1993
Verloes A, Moës D, Palumbo L, Elmer C, François A, Bricteux G
Abstract excerpt
We describe a female infant with the Schinzel-Giedion syndrome. Features present in 11 patients include coarse face, midface retraction, urogenital anomalies, poor skull vault mineralisation and variable anomalies of the long bones. Outcome is poor and mental retardation is the rule among survivo...
Topics
- Abnormalities, Multiple
- Bone and Bones
- Face
- Female
- Humans
- Infant, Newborn
- Phenotype
- Skull
- Syndrome
- Urogenital Abnormalities