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Paediatric Pulmonology and Allergology
2003 April, Vol. VI, No. 1 (pp.2075-2078)
Williams-Beuren syndrome
Stanislava Katkeviciene, Marija Jakutovic
Williams-Beuren syndrome is an autosomal dominant disorder resulting from a deletion of genes on chromosome 7. Syndrome was described in 1961. It consists of a variety of physical features, which include distinctive facial characteristics, quite wide spectrum of cardiac and vascular anomalies, idiopathic hypercalcemia, mental retardation. We report a clinical case of Williams-Beuren syndrome.