| A Case of Rett Syndrome |
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Kim Hye Soon, Lee Keun |
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Department of Pediatrics, College of Medicine, Ewah Womans University, Seoul, Korea |
| Rett 증후군 1례 |
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김혜순, 이근 |
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이화여자대학교 의과대학 소아과학교실 |
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| Abstract |
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Rett syndrome is a newly characterized developmental disorder that affect girls exclusively. These gils are born clinically normal, but their psychomotor development stagnates and deteriorates between the age of 6 months and 2 years.
The full syndrome compriseslaquired microcephaly, severe dementia, autism, loss of purposeul use of the hands, characteristic hand-wringing sterotypes, jerky ataxia of the trunk epilepsy with various types of fits, and in later years spastic and trophic changes of the lower limbs. There is no known cytogenetic, biochemical or molecular marker for the disorder;the diagnosis in based on clinical criteria.
We report a case of Rett syndrome with a brie review of related literatures. |
| Key Words:
Rett syndrome |
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