Weaver syndrome: Autosomal dominant inheritance of the disorder
1998; Wiley; Volume: 79; Issue: 4 Linguagem: Inglês
10.1002/(sici)1096-8628(19981002)79
ISSN1096-8628
AutoresVirginia K. Proud, Stephen R. Braddock, Lola Cook, David D. Weaver,
Tópico(s)Genomics and Rare Diseases
ResumoWeaver 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. Am. J. Med. Genet. 79:305–310, 1998. © 1998 Wiley-Liss, Inc.
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