Portal de Periódicos da CAPES

Williams syndrome.

1986; BMJ; Volume: 23; Issue: 5 Linguagem: Inglês

10.1136/jmg.23.5.389

1468-6244

John Burn,

Williams Syndrome Research

Williams et all in 1961 called attention to a syndrome of supravalvular aortic stenosis, mental retardation, and peculiar facial features.In 1962, Beuren et al2 described the syndrome independently and expanded it to include dental anomalies and peripheral pulmonary artery stenosis, as a result of which some authors prefer the eponym Williams-Beuren syndrome.Several earlier authors have a claim to posterity.The key cardiac defect, supravalvular aortic stenosis, was first described in 1842 by Chevers,3 was named in 1930 by Mencarelli,4 and was shown to be a familial disorder in 1959 by Sissman.5 Perhaps the strongest case can be made for Fanconi et at who described what is now known as Fanconi type idiopathic infantile hypercalcaemia (IIH) in 1952, a condition associated with a characteristic dysmorphic syndrome and cardiac defects.Joseph and Parrott7 in 1958 made particular reference to the odd facies in these children.In 1963 Black and Bonham Carter8 recognised that the 'elfin facies' of idiopathic infantile hypercalcaemia were the same as those described by Williams et all and Beuren et al.2In 1964, Garcia et al9 established this new combined entity with what isstill one of the very few fully documented examples of IIH progressing to Williams-Beuren syndrome.A major factor in the preference for the latter term was the recognition that overt hypercalcaemia is an infrequent feature when large series of cases are reviewed. 10" Clinical features GENERAL The classic syndrome is described in all dysmorphology texts: typical facies, supravalvular aortic stenosis, and variable mental retardation with a friendly, outgoing personality.