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Article

Schinzel-Giedion syndrome: further delineation of the phenotype.

Clinical dysmorphology - 1 Apr 1996

Elliott A M, Meagher-Villemure K, Oudjhane K, der Kaloustian V M

Abstract excerpt

We describe a male infant with findings typical of Schinzel-Giedion syndrome. Characteristic features include: midface retraction, widely patent fontanelles, hirsutism, choanal stenosis, hypospadias with chordae, club feet and broad ribs. The patient suffered from seizures and died at 14 months of age of fulminant bronchopneumonia. Pathological examination revealed steatosis in the liver as well as lipid...

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Identifiers

PMID: 8723563
DOI: 10.1097/00019605-199604000-00005

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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