5 CASES DEMONSTRATING THE DISTINCTIVE BEHAVIORAL FEATURES OF CHROMOSOME DELETION 17(P11.2 P11.2) (SMITH-MAGENIS SYNDROME)

被引：56

作者：

COLLEY, AF ^{[1
]}

LEVERSHA, MA ^{[1
]}

VOULLAIRE, LE ^{[1
]}

ROGERS, JG ^{[1
]}

机构：

[1] ROYAL CHILDRENS HOSP,MURDOCH INST,DEPT GENET,VICTORIAN CLIN GENET SERV,PARKVILLE,VIC 3052,AUSTRALIA

来源：

JOURNAL OF PAEDIATRICS AND CHILD HEALTH | 1990年 / 26卷 / 01期

关键词：

Abnormal behaviour; chromosome deletion; hyperactivity; self‐mutilation; sleep disturbance; Smith‐Magenis syndrome;

D O I：

10.1111/j.1440-1754.1990.tb02372.x

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

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)(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 patients. Copyright © 1990, Wiley Blackwell. All rights reserved

引用

页码：17 / 21

页数：5

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