Síndrome de Williams

Translated title of the contribution: Williams syndrome

M. Del Campo Casanelles, Luis Perez-Jurado

Research output: Contribution to journalArticlepeer-review

Abstract

Williams syndrome is a developmental disorder characterized by distinctive facial features, mild to moderate mental retardation and general cognitive deficits with a non-uniform profile, with greater problems in specific areas (psychomotricity, visuospatial integration) and relative preservation of others (language, musicality), a friendly personality, occasional hypercalcemia in infancy, and vascular disease with supravalvular aortic stenosis. It has an estimated prevalence of 1 in 7,500 newborns. Williams syndrome is caused by a sa 1,55-1,83 Mb submicroscopic deletion in the chromosome band 7q11.23, which includes 26-28 genes. Clinical-molecular correlations through good phenotypic characterization of patients and the precise analysis of breakpoints in those with atypical and typical deletions, altogether with the design of animal models and functional studies of these genes will be important in order to determine the exact contribution of the genes to the phenotype, to understand their pathogenesis and physiopathology, and to identify therapeutic tools.

Translated title of the contributionWilliams syndrome
Original languageSpanish
Pages (from-to)59-65
Number of pages7
JournalRevista Espanola de Pediatria
Volume65
Issue number1
Publication statusPublished - 1 Jan 2009
Externally publishedYes

Keywords

  • Deletion
  • Follow-up guidelines
  • Haploinsufficiency
  • Segmental duplications
  • Williams syndrome

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

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