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

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

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  • 1Department of Planning and Research, Osaka Medical Center and Research Institute for Maternal and Child Health, Izumi, Japan.


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.

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