Síndrome de Williams / Williams síndrome

El síndrome de Williams es un trastorno del desarrollo caracterizado por rasgos faciales típicos, retraso mental leve o moderado y asimétrico, con déficits notables en algunas áreas (psicomotricidad, integración visuoespacial) y relativa preservación de otras (lenguaje, musicalidad), personalidad amigable, hipercalcemia ocasional en la infancia y vasculopatía con estenosis aórtica supravalvular, que ocurre en uno de cada 7.500 recién nacidos. Está causado por una deleción submicroscópica de 1,55-1,83 Mb en la banda cromosómica 7q11.23, la cual incluye 26-28 genes. El establecimiento de correlaciones clínico-moleculares a través de una buena caracterización fenotípica, el estudio preciso de los puntos de rotura en pacientes con deleciones típicas y atípicas, acompañado del diseño de modelos animales y estudios funcionales de los genes, permiten determinar la contribución de cada gen al genotipo, conocer su patogenia y fisiopatología e identificar métodos terapéuticos. Se detallan pautas de seguimiento apropiadas a la edad para facilitar una atención clínica óptima a estos pacientes (AU)

Williams syndrome is a developmental disorder characterized by distintive 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 hypocalcaemia 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 break-pints 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 (AU)

[Clinical guide to the management of patients with Beckwith-Wiedemann syndrome]. / Guía clínica para el seguimiento de pacientes con síndrome de Beckwith-Wiedemann.

Beckwith-Wiedemann syndrome (BWS) is characterized by congenital overgrowth, macroglossia and omphalocele or umbilical hernia. Children with BWS may also have all or some of the following features: asymmetry (hemihypertrophy) of the limbs, torso or face, hypoglycemia, organomegaly, ear pits or creases, and embryonal tumors. The frequency of BWS is approximately 1:14,000 births. We present a guide for the management of children with BWS aimed at helping pediatricians and general practitioners or specialists in the clinical follow-up of these patients. This guide has been structured according to different age groups and is based on published evidence.