Weaver syndrome: Autosomal dominant inheritance of the disorder

Virginia K. Proud, Stephen R. Braddock, Lola Cook, David D. Weaver

Research output: Contribution to journalArticle

26 Scopus citations

Abstract

Weaver syndrome (WS), a condition first described in 1974 by Weaver et al., consists of macrosomia, advanced skeletal age, characteristic pattern of facial and radiographic anomalies, and contractures. Although there have been three reports of close relatives (sibs or both parent and offspring) affected with this condition, the syndrome generally occurs sporadically, and the recurrence risk in sporadic cases appears to be low. We report here on a family in which the propositus and his sister were born with the facial phenotype, club feet, and macrosomia characteristic of WS. Their father had macrosomia and macrocephaly as an adult, and childhood photos show clearly that he has WS. Two sisters of the propositus have had normal growth and development. The syndrome in this family appears to be inherited in an autosomal dominant fashion.

Original languageEnglish (US)
Pages (from-to)305-310
Number of pages6
JournalAmerican journal of medical genetics
Volume79
Issue number4
DOIs
StatePublished - Oct 2 1998

Keywords

  • Macrosomia
  • Overgrowth
  • Weaver syndrome

ASJC Scopus subject areas

  • Genetics(clinical)

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