Schinzel-Giedion syndrome
- Schinzel-Giedion syndrome
Schinzel-Giedion syndrome is a congenital neurodegenerative terminal syndrome. First described in 1978 by Dr. Schinzel and Dr. Giedion as a syndrome with severe midface retraction, skull anomalies, renal anomalies (hydronephrosis) and other anomalies (see Clinical Features). Babies born with Schinzel-Giedion syndrome have severe mental retardation, growth retardation (unless fed through a feeding tube) and global developmental delay;
External links
* [http://www.schinzel-giedion.org/ Schinzel-Giedion.org]
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