The Williams Elfin Facies Syndrome: The Psychological Profile as an Aid in Syndrome Identification

Abstract

The Williams syndrome is a sporadic disorder generally characterized by a peculiar pattern of craniofacial abnormalities (elfin facies), prenatal and postnatal growth deficiency, mental retardation, variable congenital heart disease (including supravalvular aortic stenosis), and occasionally infantile hypercalcemia.¹ Its etiology, pathogenesis, and possible relationship to vitamin D and calcium metabolism have not as yet been determined.² Previous reports of children with this syndrome make reference to their overall mental retardation as determined by IQ as measured by various psychological tests.^1,3 Frequent mention is also made of these children's tendency to an unusual, outgoing personality.^1,3 Other observers describe a unique type of mental deficiency with poor motor coordination but an unusual command of language, often resulting in a superficial overestimation of cognitive abilities.³