Jorgenson R J, Darby B, Patterson R, Trimmer K J
Central Texas Genetics Center, Austin 78756.
Prenat Diagn. 1994 Oct;14(10):989-92. doi: 10.1002/pd.1970141015.
The Klippel-Trenaunay-Weber syndrome is a complex developmental disorder of the vascular and skeletal systems. While many features of the syndrome are congenital, it has not been diagnosed often before birth. This paper describes a case of Klippel-Trenaunay-Weber syndrome diagnosed at 19 weeks' gestation on the basis of sonographic findings and family history. The clinical variability of the syndrome is emphasized and the importance of family history in differential diagnosis is stressed.
克-特-韦综合征是一种复杂的血管和骨骼系统发育障碍性疾病。虽然该综合征的许多特征是先天性的，但在出生前并不常被诊断出来。本文描述了一例在孕19周时根据超声检查结果和家族史诊断为克-特-韦综合征的病例。文中强调了该综合征的临床变异性，并着重指出了家族史在鉴别诊断中的重要性。
