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

✍ Scribed by Ceballos-Quintal, José M.; Pinto-Escalante, Doris; Castillo-Zapata, Ileana

• Publisher: John Wiley and Sons
• Year: 1996
• Tongue: English
• Weight: 6 KB
• Volume: 63
• Category: Article
• ISSN: 0148-7299
• DOI: 10.1002/(sici)1096-8628(19960614)63:3<426::aid-ajmg2>3.0.co;2-p

✦ Synopsis

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.