Five cases demonstrating the distinctive behavioural features of chromosome deletion 17(p11.2 p11.2) (Smith-Magenis syndrome) - PubMed (original) (raw)

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Five cases demonstrating the distinctive behavioural features of chromosome deletion 17(p11.2 p11.2) (Smith-Magenis syndrome)

A F Colley et al. J Paediatr Child Health. 1990 Feb.

Abstract

Children with hyperactivity and self-destructive behaviour present a difficult problem for parents and paediatricians. The syndrome described by Smith and Magenis is due to a deletion on the short arm of chromosome 17: del(17)(p11.2 p11.2). Clinical manifestations include brachycephaly and a flat mid-face; brachydactyly; short, broad hands; mental retardation; and aberrant behaviour, including hyperactivity. We report on five children, and review the literature on a newly recognised syndrome in which the behaviour manifestations may precede and often overshadow the learning disabilities and unusual appearance. In addition, we have found sleep disturbance to be a major feature in our patients.

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