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): 26-27
Article
in English
| IMSEAR
| ID: sea-138892
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.
Full text:
Available
Index:
IMSEAR (South-East Asia)
Main subject:
Brazil
/
Female
/
Humans
/
Male
/
Nuclear Family
/
Sturge-Weber Syndrome
/
Adolescent
/
Klippel-Trenaunay-Weber Syndrome
/
Adult
/
Genealogy and Heraldry
Type of study:
Prognostic study
Country/Region as subject:
South America
/
Brazil
Language:
English
Journal:
Indian J Hum Genet
Year:
2010
Type:
Article
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