Ceballos-Quintal J M, Pinto-Escalante D, Castillo-Zapata I
Centro de Investigaciones Regionales Dr. Hideyo Noguchi, Laboratorio de Genética, Universidad Autónoma de Yucatán, México.
Am J Med Genet. 1996 Jun 14;63(3):426-7. doi: 10.1002/(SICI)1096-8628(19960614)63:3<426::AID-AJMG2>3.0.CO;2-P.
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.
大多数KTW综合征病例为散发性。然而，少数情况下，其他家庭成员有该综合征的一些临床表现，提示为常染色体显性遗传模式。本文报告一个家庭，家中有一个患病儿童，患有大面积皮肤血管瘤、右腿过度生长和严重心脏缺陷。她的母亲背部左侧有一个大的毛细血管血管瘤，双下肢出现严重静脉曲张。外祖母年轻时双下肢出现严重静脉曲张。母亲和外祖母的临床体征表现为较轻的表型，可能解释为该综合征的可变表达。家族谱系支持常染色体显性遗传。
