Five cases demonstrating the distinctive behavioural features of chromosome deletion 17(p 11.2 p 11.2) (Smith‐Magenis syndrome)
作者:
A.F. COLLEY,
M.A. LEVERSHA,
L.E. VOULLAIRE,
J.G. ROGERS,
期刊:
Journal of Paediatrics and Child Health
(WILEY Available online 1990)
卷期:
Volume 26,
issue 1
页码: 17-21
ISSN:1034-4810
年代: 1990
DOI:10.1111/j.1440-1754.1990.tb02372.x
出版商: Blackwell Publishing Ltd
关键词: Abnormal behaviour;chromosome deletion;hyperactivity;self‐mutilation;sleep disturbance;Smith‐Magenis syndrome
数据来源: WILEY
摘要:
AbstractChildren 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)(p 11.2 p 11.2). 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 patie
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