WEAVER-SYNDROME - AUTOSOMAL-DOMINANT INHERITANCE OF THE DISORDER

Weaver syndrome (WS), a condition first described in 1974 by Weaver et al,, consists of macrosomia, advanced skeletal age, characteristic pa ttern 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 o ccurs 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 sister s of the propositus have had normal growth and development. The syndro me in this family appears to be inherited in an autosomal dominant fas hion. (C) 1998 Wiley-Liss, Inc.