Memorias del Instituto de Investigaciones en Ciencias de la Salud
ISSN 1812-9528 versão on-line
Williams syndrome, also known as Williams-Beuren syndrome, Idiopathic hypercalcemia or supravalvular aortic stenosis syndrome, is a genetic disorder characterized by dysmorphic facies with typical features, mental retardation, growth deficiencies, anomalies of connective tissue, cardiovascular anomalies, a typical personality and sometimes hypercalcemia during childhood. The frequency of this syndrome has been estimated as 1 in 10,000 to 20,000 births. The cause is a sub-microscopic deletion of 7q11-13 chromosome that includes the elastine gen (ELN) in 90 to 95% of cases. This is a syndrome of adjacent genes (different genes involved, produce different symptoms)and the genes involved are: ELN (involved in the anomalies of connective tissue), GTF21 (involved in the mental retardation) andLIMK1 (involved in the syndrome phenotype). In most cases the deletion is de novo, though transmission from parents to children has been reported. The prenatal diagnosis can be made by fluorescent in situ hybridization (FISH). Here we report the cases of a one-year-nine-month-old boy, another one-year-ten-month-old boy and a six-year-eight-month-old girl, the three of them with different clinical characteristics. This work emphasizes the importance of phenotype above all the other characteristics of the syndrome that may or may not be present.
Palavras-chave: Supravalvular aortic stenosis; deletion; elastine.
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