Pereira de Godoy José Maria, Fett-Conte Agnes Cristina
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.
Indian J Hum Genet. 2010 Jan;16(1):26-7. doi: 10.4103/0971-6866.64943.
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.
本病例报告展示了一项谱系研究，其中一名女性患有肢体肥大症，她的儿子同时患有斯特奇-韦伯综合征和克-特-韦综合征。斯特奇-韦伯综合征和克-特-韦综合征似乎是同一种疾病的不同表现形式。存在家族聚集现象，且两代人之间的遗传传递可能几乎难以察觉。识别轻微表现可能对家族遗传咨询和预防新病例具有重要价值。
