Dominant inheritance and intra–familial variations in the association of Sturge–Weber and Klippel–Trenaunay–Weber syndromes
نویسندگان
چکیده
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.
منابع مشابه
Congenital Vascular Anomalies: A Case Report
Submit Manuscript | http://medcraveonline.com sometimes it may occur as an autosomal dominant trait [1,2]. Klippel-Trenaunay-Weber Syndrome is a cutaneous vascular malformation affecting the development of blood vessels, soft tissues and bones [3]. This is a non-heritable disorder which is present at birth and usually involves lower limb but may involve more than one limb and a portion of the t...
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