Un caso de síndrome de Williams-Beuren o facies de gnomo o duendecillo
2005; Elsevier BV; Volume: 34; Issue: 3 Linguagem: Inglês
ISSN
2530-3139
AutoresFernández Moreno, Carlos Javier,
Tópico(s)Williams Syndrome Research
ResumoWilliams-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.
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