Dominant inheritance and intra-familial variations in the association of Sturge-Weber and Klippel-Trenaunay-Weber syndromes

José Maria Pereira de Godoy; Agnes Cristina Fett-Conte

doi:10.4103/0971-6866.64943

Dominant inheritance and intra-familial variations in the association of Sturge-Weber and Klippel-Trenaunay-Weber syndromes

Indian J Hum Genet. 2010 Jan;16(1):26-7. doi: 10.4103/0971-6866.64943.

Authors

José Maria Pereira de Godoy¹, Agnes Cristina Fett-Conte

Affiliation

¹ Adjunct Professor of the Cardiology and Cardiovascular Surgery Department and Professor of the Post Graduation course of Medical School of São Jose do Rio Preto-SP-FAMERP and CNPq Researcher-Brazil.

Abstract

This case report shows a genealogical study where a woman has limb hypertrophy and her son has an association of Sturge-Weber syndrome with Klippel-Trenaunay-Weber syndrome. The Sturge-Weber and Klippel-Trenaunay-Weber syndromes appear to be different manifestations of the same affliction. Familial aggregation exists and transmission may be almost imperceptible between generations. Identification of minor manifestations may prove to be a valuable contribution to genetic counseling of families and the prevention of new cases.

Keywords: Genealogical study; Klippel–Trenaunay–Weber syndrome; Sturge–Weber syndrome.

Publication types

Case Reports