Abstract
Williams syndrome (OMIM 194050) is a multisystem inherited disorder associated with microdeletion of the long arm of chromosome 7 (q11.23). Typical clinical manifestations of the syndrome are supravalvular aortic stenosis and other congenital anomalies of the heart and blood vessels, facial abnormalities, neonatal hypercalcemia, lag in physical, psychomotor and mental development, unusual cognitive and behavioral profile. Patients with WS require medical supervision and prevention of complications throughout their lives. The paper presents an overview of the results of studies devoted to the study of various aspects of diagnosis and management of patients with WS. The description of the three new cases of WS addresses the main problems and possibilities of diagnosis of the disease in patients with different clinical manifestations.
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