| Autor: |
Colley AF; Victorian Clinical Genetics Services, Murdoch Institute, Royal Children's Hospital, Melbourne, Victoria, Australia., Leversha MA, Voullaire LE, Rogers JG |
| Jazyk: |
angličtina |
| Zdroj: |
Journal of paediatrics and child health [J Paediatr Child Health] 1990 Feb; Vol. 26 (1), pp. 17-21. |
| DOI: |
10.1111/j.1440-1754.1990.tb02372.x |
| Abstrakt: |
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. |
| Databáze: |
MEDLINE |
| Externí odkaz: |
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