Schinzel-Giedion syndrome and congenital megacalyces
- PMID: 8516031
- DOI: 10.1007/BF02012399
Schinzel-Giedion syndrome and congenital megacalyces
Abstract
The Schinzel-Giedion syndrome is a rare autosomal recessive condition with typical facies, skeletal manifestations and congenital hydronephrosis. We report an infant with characteristic findings who had bilateral congenital megacalyces. Congenital megacalyces is believed to be a developmental abnormality, occurs in other malformation syndromes and has not previously been described in the Schinzel-Giedion syndrome.