Five cases demonstrating the distinctive behavioural features of chromosome deletion 17(p11.2 p11.2) (Smith-Magenis syndrome).
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.
Colley
A F
AF
Victorian Clinical Genetics Services, Murdoch Institute, Royal Children's Hospital, Melbourne, Victoria, Australia.
Leversha
M A
MA
Voullaire
L E
LE
Rogers
J G
JG
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