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 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.
Ceballos-Quintal
J M
JM
Centro de Investigaciones Regionales Dr. Hideyo Noguchi, Laboratorio de Genética, Universidad Autónoma de Yucatán, México.
Pinto-Escalante
D
D
Castillo-Zapata
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I
D002675:Child, Preschool; D005260:Female; D005799:Genes, Dominant; D006330:Heart Defects, Congenital / Q000235:genetics; D006391:Hemangioma / Q000150:complications / Q000235:genetics; D006801:Humans; D006984:Hypertrophy; D007231:Infant, Newborn; D007715:Klippel-Trenaunay-Weber Syndrome / Q000150:complications* / Q000235:genetics*; D007866:Leg / Q000002:abnormalities / Q000473:pathology; D010375:Pedigree; D011247:Pregnancy; D014648:Varicose Veins / Q000235:genetics