Williams-Beuren syndrome: An update and review for the primary physician

Williams-Beuren syndrome is :an autosomal dominant disorder resulting from a submicroscopic deletion of contiguous genes on the long arm of chromosome 7. It consists of a variety of hallmark physical features, which include d istinctive facial characteristics, cardiac anomalies (of which the most com mon is supravalvular aortic stenosis), and occasional idiopathic hypercalce mia. The condition also includes a unique cognitive profile, with relative sparing of language and facial recognition skills against a background of m ental retardation. This paper reviews the early history and clinical experi ence with this syndrome, how it unfolds from infancy through adulthood, and how it manifests in different organ systems. Evidence-based recommendation s are then offered for the treatment of the specific developmental and medi cal issues that arise in patients with Willams syndrome.