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Indian Journal of Human Genetics
Medknow Publications on behalf of Indian Society of Human Genetics
ISSN: 0971-6866 EISSN: 0971-6866
Vol. 16, No. 1, 2010, pp. 26-27
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Bioline Code: hg10005
Full paper language: English
Document type: Report
Document available free of charge
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Indian Journal of Human Genetics, Vol. 16, No. 1, 2010, pp. 26-27
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Dominant inheritance and intra-familial variations in the association of Sturge-Weber and Klippel-Trenaunay-Weber syndromes
Pereira de Godoy, Jose Maria & Fett-Conte, Agnes Cristina
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
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© Copyright 2010 Indian Journal of Human Genetics. Alternative site location: http://www.ijhg.com/
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