Jeune asphyxiating thoracic dystrophy and short-rib polydactyly type III (Verma-Naumoff) are variants of the same disorder

Nicola C. Ho, Clair Ann Francomano, Margot Van Allen

Research output: Contribution to journalArticle

Abstract

Jeune syndrome (JS) and short-rib polydactyly syndrome type III (SRP type III) are autosomal recessive disorders characterized by short ribs and polydactyly. They are distinguished from each other by the more severe radiological and histological bone findings as well as the occurrence of facial anomalies, ambiguous genitalia, and occasionally, cloacal abnormalities in SRP type III. We present a family in which two children have mild JS and one has SRP type III as evidence that JS and SRP type III are variants of the same disorder. The intrafamilial variability may reflect the effects of modifying loci on gene expression. (C) 2000 Wiley-Liss, Inc.

Original languageEnglish (US)
Pages (from-to)310-314
Number of pages5
JournalAmerican Journal of Medical Genetics
Volume90
Issue number4
DOIs
Publication statusPublished - 2000

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Keywords

  • Intrafamilial variability
  • Jeune syndrome
  • Modifying loci
  • Short-rib polydactyly type III

ASJC Scopus subject areas

  • Genetics(clinical)

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