Resumo

FERNANDEZ MORENO, Carlos Javier. A Case of Williams-Beuren Syndrome. rev.colomb.psiquiatr. [online]. 2005, vol.34, n.3, pp.435-440. ISSN 0034-7450.

Williams-Beuren syndrome is a rare disease. Characterized by clinically mild or moderate mental retardation, aortic supravalvular stenosis, hipercalcemia and typically dismorphic elfinlike faces. The syndrome is due to a genetic disorder, generally deletion of the long arm of chromosome 7 (7q11.23), producing loss of gene codification for elastin. Every case is produced of new, when it is inherited it does so as an autosomic dominant character.

Palavras-chave : Williams syndrome; mental retardation; aortic valve stenosis; elastin; chromosome 7.

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