Williams-Beuren syndrome: A multidisciplinary approach

Williams-Beuren syndrome (WBS) (OMIM#.194050) is a rare, most often sporadic, genetic disease Caused by a Chromosomal micro-detection at locus 7q11.23 involving 28 genes. Among these, the elastin gene codes for the essential Component of the arterial extracellular matrix. Developmental disorders usually associate all atypical face, cardiovascular malformations (most often supraalvular aortic stenosis and/or pulmonary artery stenosis) and a unique neuropsychological profile. This profile is defined by moderate mental retardation, relatively well-preserved language skills, visuospatial deficits and hypersociabilily. Other less known or rarer features, Such as neonatal hypercalcemia, nutrition problems in infancy, ophthalmological anomalies, hypothyroidism, growth retardation, joint disturbances, dental anomalies and hypertension arising in adolescence Or adulthood, should be treated. The aim of this paper is to summarize the major points of WBS regarding: (i) The different genes involved in the deletion and their function, especially the elastin gene and recent reports of rare forms of partial WBS or of all opposite syndrome stemming from a microduplication of the 7q.11.23 locus, (ii) the clinical features in Children and adults with a focus on cardiovascular injury, and (iii) the specific neuropsychological profile of people with WBS through its characteristics, the brain structures involved, and learning. (C) 2008 Elsevier Masson SAS. All rights reserved.