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Elliott AM, Meagher-Villemure K, Oudjhane K, et al. Schinzel-Giedion syndrome: further delineation of the phenotype. Clin Dysmorphol. 1996;5(2):135-42doi: 10.1097/00019605-199604000-00005.
Elliott, A. M., Meagher-Villemure, K., Oudjhane, K., & der Kaloustian, V. M. (1996). Schinzel-Giedion syndrome: further delineation of the phenotype. Clinical dysmorphology, 5(2), 135-42. https://doi.org/10.1097/00019605-199604000-00005
Elliott, A M, et al. "Schinzel-Giedion syndrome: further delineation of the phenotype." Clinical dysmorphology vol. 5,2 (1996): 135-42. doi: https://doi.org/10.1097/00019605-199604000-00005
Elliott AM, Meagher-Villemure K, Oudjhane K, der Kaloustian VM. Schinzel-Giedion syndrome: further delineation of the phenotype. Clin Dysmorphol. 1996 Apr;5(2):135-42. doi: 10.1097/00019605-199604000-00005. PMID: 8723563.
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Clin Dysmorphol. 1996 Apr;5(2):135-42. doi: 10.1097/00019605-199604000-00005.

Schinzel-Giedion syndrome: further delineation of the phenotype.

Clinical dysmorphology

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

Affiliations

  1. F. Clarke Fraser Clinical Genetics Unit, Division of Medical Genetics, Montreal Children's Hospital, Quebec, Canada.

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

Abstract

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 vacuolization of the zona fasciculata of the adrenals.

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