alexa Diagnosis and management of medical problems in adults with Williams-Beuren syndrome.
Genetics & Molecular Biology

Genetics & Molecular Biology

Journal of Molecular and Genetic Medicine

Author(s): Pober BR, Morris CA

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Abstract Williams-Beuren syndrome (WBS) is a multi-system disorder that requires ongoing management by a primary care physician familiar with the natural history and common medical problems associated with the condition. Some abnormalities are unique to WBS, such as the elastin arteriopathy that often manifests as supravalvar aortic stenosis and hypertension. Still other features, such as diverticulosis, are seen in the general population but tend to present earlier in WBS. Life long monitoring of the cardiovascular and endocrine systems is essential to the clinical management of individuals with Williams-Beuren syndrome. Constipation should be aggressively managed, and symptoms of abdominal pain should prompt an evaluation for diverticulosis/diverticulitis. While the mean IQ of WBS is in the mild mental retardation range, difficulties with attention and anxiety are more likely to negatively impact independent functioning in the adult with WBS. There is no evidence for decline in cognitive ability over time, but adaptive functioning may be improved with treatment of anxiety by both behavior and medical modalities. (c) 2007 Wiley-Liss, Inc. This article was published in Am J Med Genet C Semin Med Genet and referenced in Journal of Molecular and Genetic Medicine

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