摘要：Williams-Beuren syndrome is a genetic neurodevelopmental disorder that includes different clinical manifestations as growth retardation and intellectual, congenital heart disease and distinctive facial features. The aim of this study was to describe the clinical features that leading to their diagnosis, know their phenotypic evolution and provide appropriate treatment. A retrospective, descriptive case series study, which included all patients with a diagnosis of Williams-Beuren syndrome, evaluated in the Autonomous Institute University Hospital of Los Andes, from January 2000 to June 2014 was performed. The main complaint was the presence of facial dysmorphic and congenital heart disease in all cases. Stenosis of bilateral pulmonary artery was the most common type of congenital heart disease in 4/7 patients. Williams-Beuren syndrome is a genetic entity which shows a wide spectrum of clinical features. All these findings allows diagnosis, provide adequate medical, psychotherapeutic and educational care that improves their quality of life, survival and integration into society.
关键词：Williams-Beuren syndrome, Clinic, Diagnostics, Attention;Síndrome de Williams-Beuren, Clínica, Diagnóstico, Atención
