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

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

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.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Abnormalities, Multiple / diagnosis*
  • Bone and Bones / abnormalities*
  • Face / abnormalities*
  • Female
  • Humans
  • Infant, Newborn
  • Skull / abnormalities*
  • Syndrome