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

J Paediatr Child Health. 1990 Feb;26(1):17-21. doi: 10.1111/j.1440-1754.1990.tb02372.x.

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.

Publication types

  • Case Reports

MeSH terms

  • Child
  • Child Behavior Disorders / etiology*
  • Child, Preschool
  • Chromosome Aberrations / diagnosis
  • Chromosome Aberrations / genetics*
  • Chromosome Aberrations / pathology
  • Chromosome Deletion
  • Chromosome Disorders
  • Chromosomes, Human, Pair 17*
  • Female
  • Humans
  • Intellectual Disability / etiology
  • Karyotyping
  • Male
  • Self Mutilation / etiology