THE 16 INDIVIDUALS (Figure) who range in age from 6 months to 47 years have the same diagnosis.
Denouement and Discussion
Williams-Beuren syndrome (WBS) is a genetic disorder involving multiple systems with characteristic findings that include a distinctive facies, psychomotor retardation, and cardiovascular abnormalities. The cardiovascular abnormality most closely associated with WBS is supravalvular aortic stenosis, but other vascular abnormalities may be present including pulmonary artery stenosis and cerebral vascular stenoses. Supravalvular aortic stenosis, once considered the hallmark of WBS, was present in only one third of these individuals, two thirds of whom had cardiovascular abnormalities.1 More recently, cerebral artery stenoses leading to strokes in childhood have been reported.2,3 Malformations of the kidneys and urinary tract, radioulnar synostosis, and joint contractures may also be present.4-7 Short stature is present in most individuals.8 Children affected by WBS are irritable as infants, but as they
Pankau R, Partsch C, Gosch A, Winter M, Wessel A. Picture of the Month. Arch Pediatr Adolesc Med. 1997;151(2):203–204. doi:https://doi.org/10.1001/archpedi.1997.02170390093018
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