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

Abstract

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 skin 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.

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@article{CeballosQuintal1996ANC, title={A new case of Klippel-Trenaunay-Weber (KTW) syndrome: evidence of autosomal dominant inheritance.}, author={Jos{\'e} Miguel Ceballos-Quintal and Doris del Carmen Pinto-Escalante and Ileana Castillo-Zapata}, journal={American journal of medical genetics}, year={1996}, volume={63 3}, pages={426-7} }