A patient with Schinzel-Giedion syndrome and a review of 20 patients

Abstract

The Schinzel-Giedion syndrome is characterized by severe midface retraction, multiple skull anomalies, clubfeet, and cardian and renal malformations. So far, 20 patients have been reported. This is the first report of the syndrome demonstrated in Oriental patients. In surviving patients, severe growth and developmental deficiency is a common finding. © 1995 The Japan Society of Human Genetics.