| BRIEF REPORT |
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| Year : 2010 | Volume
: 16
| Issue : 1 | Page : 26-27 |
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Dominant inheritance and intra-familial variations in the association of Sturge-Weber and Klippel-Trenaunay-Weber syndromes
Jose Maria Pereira de Godoy1, Agnes Cristina Fett-Conte2
1 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
2 Molecular Biology Department Medical School, FAMERP, Brazil
Correspondence Address:
Jose Maria Pereira de Godoy
Rua Floriano Peixoto, 2950, São José do Rio Preto-SP, 15020-010
Brazil
DOI: 10.4103/0971-6866.64943 PMID: 20838488
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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. |
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