title: Prenatal diagnosis of the Klippel-Trenaunay-Weber syndrome.
abstract: 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.
authors.affiliation: Central Texas Genetics Center, Austin 78756.
authors.forename: R J
authors.initials: RJ
authors.lastname: Jorgenson
authors.forename: B
authors.initials: B
authors.lastname: Darby
authors.forename: R
authors.initials: R
authors.lastname: Patterson
authors.forename: K J
authors.initials: KJ
authors.lastname: Trimmer
mesh_terms: D000328:Adult; D005192:Family Health; D005260:Female; D005315:Fetal Diseases / Q000175:diagnosis* / Q000000981:diagnostic imaging; D006801:Humans; D007715:Klippel-Trenaunay-Weber Syndrome / Q000175:diagnosis* / Q000000981:diagnostic imaging; D008297:Male; D011247:Pregnancy; D011262:Pregnancy Trimester, Second; D011296:Prenatal Diagnosis; D016216:Ultrasonography, Prenatal