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

作者信息

Okamoto N, Takeuchi M, Kitajima H, Hosokawa S

机构信息

Department of Planning and Research, Osaka Medical Center and Research Institute for Maternal and Child Health, Izumi, Japan.

出版信息

Jpn J Hum Genet. 1995 Jun;40(2):189-93. doi: 10.1007/BF01883576.

DOI:10.1007/BF01883576

PMID:7662999

Abstract

The Schinzel-Giedion syndrome is characterized by severe midface retraction, multiple skull anomalies, clubfeet, and cardiac 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.

摘要