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East African Medical Journal

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Williams-Beuren syndrome: a rare presentation of aortic hypoplasia

D.S. Quadros, N Karim, F.A.A. Sattar

Abstract


William-Beuren syndrome (WBS) is a rare genetic disorder resulting from a micro-deletion of the elastin gene located on the long arm of chromosome 7 (7q11.23). Characterized by typical elfin facies, mental deficiency, overfriendly personality and occasionally infantile hypercalcemia together with various eye, teeth, cardiovascular, renal and skeletal abnormalities. Herein, we describe two cases of diffuse narrowing of the entire aorta, with associated pulmonary artery narrowing. To the best of our knowledge, these two cases of aortic hypoplasia associated with WBS are the first to be reported in the region.

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