title: Five cases demonstrating the distinctive behavioural features of chromosome deletion 17(p11.2 p11.2) (Smith-Magenis syndrome).
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.
authors.affiliation: Victorian Clinical Genetics Services, Murdoch Institute, Royal Children's Hospital, Melbourne, Victoria, Australia.
authors.forename: A F
authors.initials: AF
authors.lastname: Colley
authors.forename: M A
authors.initials: MA
authors.lastname: Leversha
authors.forename: L E
authors.initials: LE
authors.lastname: Voullaire
authors.forename: J G
authors.initials: JG
authors.lastname: Rogers
mesh_terms: D002648:Child; D002653:Child Behavior Disorders / Q000209:etiology*; D002675:Child, Preschool; D002869:Chromosome Aberrations / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D002872:Chromosome Deletion; D025063:Chromosome Disorders; D002886:Chromosomes, Human, Pair 17; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000209:etiology; D007621:Karyotyping; D008297:Male; D012652:Self Mutilation / Q000209:etiology