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Williams-Beuren Syndrome: An Update and Review for the Primary Physician

Andrew K. Smith, MD, CM

John M. Graham, Jr, MD, ScD

Medical Genetics Birth Defects Center, Steven Spielberg Pediatric Research Center, Ahmanson Pediatric Center, SHARE's Child Disability Center, Department of Pediatrics, Cedars-Sinai Medical Center, University Affiliated Program, UCLA School of Medicine, Los Angeles, CA

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 distinctive facial characteristics, cardiac anomalies (of which the most common is supravalvular aortic stenosis), and occasional idiopathic hypercalcemia. The condition also includes a unique cognitive profile, with relative sparing of language and facial recognition skills against a background of mental retardation. This paper reviews the early history and clinical experience with this syndrome, how it unfolds from infancy through adulthood, and how it manifests in different organ systems. Evidence-based recommendations are then offered for the treatment of the specific developmental and medical issues that arise in patients with Willams syndrome.

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