A new case of Klippel-Trenaunay-Weber (KTW) syndrome: Evidence of autosomal dominant inheritance

Most cases of KTW syndrome are sporadic. However, in a few, other family members have some clinical manifestations of the syndrome, and an autosomal dominant mode of inheritance has been suggested, In this paper we present a family with an affected child who has large slain hemangiomata, overgrowth of the right leg, and severe heart defects, Her mother has a large capillary hemangioma on the left side of back and has developed severe varicosities in both lower extremities, The maternal grandmother developed severe varicosities in her legs at a young age, The clinical signs found in the mother and maternal grandmother represent a milder phenotype and might be explained as variable expressivity of the syndrome. The family tree supports autosomal dominant inheritance. (C) 1996 Wiley-Liss, Inc.