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Five cases demonstrating the distinctive behavioural features of chromosome deletion 17(p 11.2 p 11.2) (Smith‐Magenis syndrome)
Author(s) -
COLLEY A.F.,
LEVERSHA M.A.,
VOULLAIRE L.E.,
ROGERS J.G.
Publication year - 1990
Publication title -
journal of paediatrics and child health
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.631
H-Index - 76
eISSN - 1440-1754
pISSN - 1034-4810
DOI - 10.1111/j.1440-1754.1990.tb02372.x
Subject(s) - brachycephaly , brachydactyly , medicine , speech delay , chromosome , pediatrics , psychiatry , short stature , genetics , gene , surgery , skull , biology
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.