This case series describes the clinical features of patients with supravalvular aortic stenosis, impaired growth, mental deficiency, and distinct facial features, consistent with Williams syndrome.
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Recognizes a distinct phenotype in pediatric supravalvular aortic stenosis; leaves open genetic basis and natural history for further study.
Congenital supravalvular aortic stenosis is due to a variety of anomalies in the proximal portion of the ascending aorta. Clinically, however, the most important lesion is a circular constriction of the aortic wall above the valve cusps. In certain patients with this type of anomaly, the supravalvular aortic stenosis constitutes one element of a clinical syndrome marked also by impaired growth, mental deficiency, and a characteristic facial appearance. Three patients with the features of this syndrome have been seen in this hospital since 1955. The purpose of this report is to present these patients whose syndrome was first described by Williams et al in New Zealand. Case Reports Case1.—Patient 1 was seen at 8 years of age. He was born prematurely and his physical growth and mental development were retarded. He had frequent respiratory infections, exertional dyspnea, and fatigue for several years. A heart murmur was discovered at the
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Cyrus Farrehi (1964) studied this question.
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