Document Detail

Dominant inheritance and intra-familial variations in the association of Sturge-Weber and Klippel-Trenaunay-Weber syndromes.
MedLine Citation:
PMID:  20838488     Owner:  NLM     Status:  PubMed-not-MEDLINE    
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.
José Maria Pereira de Godoy; Agnes Cristina Fett-Conte
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Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  Indian journal of human genetics     Volume:  16     ISSN:  0971-6866     ISO Abbreviation:  Indian J Hum Genet     Publication Date:  2010 Jan 
Date Detail:
Created Date:  2010-09-14     Completed Date:  2011-07-14     Revised Date:  2013-05-29    
Medline Journal Info:
Nlm Unique ID:  101223637     Medline TA:  Indian J Hum Genet     Country:  India    
Other Details:
Languages:  eng     Pagination:  26-7     Citation Subset:  -    
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.
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