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Williams syndrome: an update on clinical and molecular aspects
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Introduction |
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Williams syndrome is a neurodevelopmental disorder associated with a characteristic physical and behavioural phenotype. The syndrome was described in 1961 by Williams et al who recognised a group of children with supravalvar aortic stenosis, mental retardation, and dysmorphic facial features.1 Beuren et al independently described the syndrome, noting also the friendly nature of these children, and later expanded it to include dental anomalies and peripheral pulmonary artery stenosis.2 3 Subsequent authors recognised the association with idiopathic hypercalcaemia.
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Since the discovery in 19934 that Williams syndrome is caused by a chromosomal microdeletion, features resulting from the deletion of contiguous genes, there has been increasing interest in trying to unravel the underlying molecular basis of the cognitive and behavioural aspects of this syndrome.
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Clinical history |
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Infants with Williams syndrome are usually born following an
uneventful pregnancy with an average birth weight of 2760 g. In the
neonatal period feeding problems are common and often accompanied by
vomiting
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