The Schinzel-Giedion syndrome. A case report and review of the literature

Abstract

The authors discuss a 1-day-old boy who had Schinzel-Giedion syndrome. This is the fifth case reported in the literature, and it presents additional abnormalities that have not been reported previously. The Schinzel-Giedion syndrome includes facially dysmorphic, skeletal, cardiac, and genito-urinary anomalies, but mainly congenital hydronephrosis. The diagnosis can be made by clinical and radiological examinations.