SciELO - Scientific Electronic Library Online

 
vol.5 número1 índice de autoresíndice de materiabúsqueda de artículos
Home Pagelista alfabética de revistas  

Servicios Personalizados

Revista

Articulo

Indicadores

  • No hay articulos citadosCitado por SciELO

Links relacionados

  • No hay articulos similaresSimilares en SciELO

Compartir


Memorias del Instituto de Investigaciones en Ciencias de la Salud

versión On-line ISSN 1812-9528

Resumen

HERREROS, MB; ASCURRA, M  y  FRANCO, R. Williams syndrome- Report of three cases. Mem. Inst. Investig. Cienc. Salud [online]. 2007, vol.5, n.1, pp.45-49. ISSN 1812-9528.

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.

Palabras clave : Supravalvular aortic stenosis; deletion; elastine.

        · resumen en Español     · texto en Español     · Español ( pdf )

 

Creative Commons License Todo el contenido de esta revista, excepto dónde está identificado, está bajo una Licencia Creative Commons