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Smith-Magenis syndrome (Ann C. M. Smith)

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    A rare condition characterized by facial dysmorphy with distinctive facial features progress with age, developmental delay, cognitive impairment with moderate to severe learning difficulties, and behavioural abnormalities including frequent outbursts/temper tantrums, attention seeking and self-injurious behaviours. About 1 in 25,000 children are born with this condition, which us caused by an interstitial deletion of chromosome 17p11.2. In 1986, Ann C. M. Smith and Ruth Ellen Magenis described 9 individuals with a chromosomal deletion at 17p11.2


    • A. C. M. Smith, L. McGavran, G. Waldstein
      Deletion of the 17 short arm in two patients with facial clefts.
      The American Journal of Human Genetics, Chicago, 1982, 34 (Supplement): A410.
    • A. C. M. Smith, L. McGavran, J. Robinson, G. Waldstein, J. Macfarlane, J. Zonana, J. Reiss, M. Lahr, L. Allen, E. Magenis:
      Interstitial deletion of (17)(p11.2p11.2) in nine patients.
      American Journal of Medical Genetics, New York, 1986, 24: 393-414.
    • A. C. Smith, E. Dykens, F. Greenberg:
      Behavioral phenotype of Smith-Magenis syndrome (del 17p11.2).
      American Journal of Medical Genetics, 1998, 81: 179-185.
    • A. C. Smith, E. Dykens, F. Greenberg:
      Sleep disturbance in Smith-Magenis syndrome (del 17 p11.2).
      American Journal of Medical Genetics, 1998, 81: 186-191.
    • E. M. Dykens and A. C. Smith:
      Distinctiveness and correlates of maladaptive behaviour in children and adolescents with Smith-Magenis syndrome.
      Journal of Intellectual Disability Research, Oxford, 1998, 42 (Pt 6): 481-489
    • A. C. Smith, Andrea L. Gropman, Joan E. Bailey-Wilson, Ozlem Goker-Alpan, Sarah H. Elsea, Jan Blancato, James R. Lupski, Lorraine Potocki:
      Hypercholesterolemia in children with Smith-Magenis syndrome: del (17) (p11.2p11.2). Genetics in Medicine, Baltimore, 2002, 4:118-125.
    • A. C. M. Smith, A. K. Leonard, A. Gropman, D. Krasnewich:
      Growth assessment of Smith-Magenis syndrome (abstract).
      54th Annual Meeting of the American Society of Human Genetics, Toronto 2004, page 145.
    • A. C. M. Smith and Wallace C. Duncan:
      Smith-Magenis syndrome: a developmental disorder of circadian dysfunction.
      In: M. G. Butler and F. J. Meaney, editors: Genetics of Developmental Disabilities. Taylor and Francis Group, Boca Raton, 2005.
    • A. C. Smith, R. E, Magenis, S. H. Elsea:
      Overview of Smith-Magenis syndrome.
      Journal of the Association of Genetic Technologists, 2005, 31:163-167.
    • A. C. M. Smith and A. Gropman:
      Smith-Magenis syndrome.
      In: J. Allanson and S. Cassidy, editors: Clinical Management of Common Genetic Syndromes, 2 edition. Wiley-Liss, New York, 2005.
    • A. L. Gropman, W. C. Duncan, A. C. Smith:
      Neurologic and developmental features of the Smith-Magenis syndrome (del 17p11.2).
      Pediatric Neurology, New York, 2006, 34: 337-350.

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