EC Paediatrics

William-Beuren syndrome (WBS) has been defined as a rare multisystem disorder with a serious phenotype. It affects about 1 in 7,500 newborns and has marked genotypic and phenotypic variations. Its endocrinological, mental, and behavioral characteristics force the collaboration of several medical and non-medical professionals. Consequently, a huge amount of fundamental clinical, anatomical, and experimental data has shown the close relationship between genetic constitution and the phenotype of children with WBS. In 1961, three children with supravalvular aortic stenosis were described. Approximately 15 years later, four patients with the same heart condition, mental and distinctive facial appearance were reported.

 Keywords: William-Beuren syndrome; Arterial Hypertension; Coarctation of the Aorta

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