Literature DB >> 9823491

Congenital bowing of the long bones in two fetuses presenting features of Stüve-Wiedemann syndrome and Schwartz-Jampel syndrome type 2.

S Sigaudy1, A Moncla, C Fredouille, B Bourlière, J C Lambert, N Philip.   

Abstract

We report two fetuses with congenital bowing of the long bones. Clinical and radiological features led us to consider two conditions: the Stüve-Wiedemann syndrome and the neonatal Schwartz-Jampel syndrome type 2. Similarities between the two syndromes are discussed.

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Year:  1998        PMID: 9823491     DOI: 10.1097/00019605-199810000-00004

Source DB:  PubMed          Journal:  Clin Dysmorphol        ISSN: 0962-8827            Impact factor:   0.816


  2 in total

Review 1.  Stüve-Wiedemann Syndrome: Update on Clinical and Genetic Aspects.

Authors:  Débora Romeo Bertola; Rachel S Honjo; Wagner A R Baratela
Journal:  Mol Syndromol       Date:  2016-03-16

2.  Congenital contractures and distinctive phenotypic features consistent with Stuve-Wiedmann syndrome in a male infant.

Authors:  Ali Al Kaissi; Monika Rumpler; Robert Csepan; Franz Grill; Klaus Klaushofer
Journal:  Cases J       Date:  2008-08-21
  2 in total

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