Literature DB >> 2266602

A Japanese male infant with the Weaver syndrome.

I Kondo1, Y Mori, K Kuwajima.   

Abstract

A 15-month-old male infant who had pre- and postnatal overgrowth, accelerated bone maturation and characteristic facial appearance was described. Although a Japanese female with Weaver syndrome previously reported had slightly different clinical manifestations from others, our patient had typical clinical features of Weaver syndrome. We suggest that a genetic mutation of the syndrome may be the same in Japanese as other ethnic groups and that Weaver syndrome may be an autosomal dominant disorder with variable expressions.

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Year:  1990        PMID: 2266602     DOI: 10.1007/BF01876855

Source DB:  PubMed          Journal:  Jinrui Idengaku Zasshi        ISSN: 0021-5074


  1 in total

1.  Weaver syndrome associated with bilateral congenital hip and unilateral subtalar dislocation.

Authors:  P Mikalef; T Beslikas; I Gigis; I Bisbinas; T Papageorgiou; I Christoforides
Journal:  Hippokratia       Date:  2010-07       Impact factor: 0.471

  1 in total

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