Williams-Beuren Syndrome

Abstract

Williams-Beuren syndrome (WBS) is a genetic neurodevelopmental disorder characterized by distinctive facial features, mental disability with unique cognitive and personality profiles, supravalvular aortic stenosis (SVAS), short stature, occasional transient hypercalcemia in infancy, and connective tissue anomalies (1,2). It was first reported in 1952 under the name “idiopathic infantile hypercalcemia” as a syndrome defined by hypercalcemia, characteristic facial features, and failure to thrive (3). Williams et al. (1961) and Beuren et al. (1962) described the syndrome independently as a disorder involving characteristic facial features, SVAS, and mental retardation (4,5). Subsequent reports clearly demonstrated that the previously described clinical entities were the same, which might include a wider spectrum of abnormalities (1,6).