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PubMed · 3657039

[Rett syndrome--case report].

D Glaser·H Marx·I H Pawlowitzki
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Abstract

We report on a 13 years old girl with Rett syndrome (autism, dementia, ataxia and loss of purposeful hand use in girls). The Rett syndrome is unexpectedly frequent (1:15,000 in 1-14 years old girls). The diagnosis is based solely upon clinical development observation. Typical false diagnoses are: autism, some types of epilepsia, deprivation, cerebral palsy, degenerative encephalopathy, infantile psychosis and types of ataxia. The etiology is unknown, genetic factors, possibly an X-linked dominant new mutation, explain many, but not all findings. The empiric recurrence-risk is apparently low.

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AtaxiaAutistic DisorderChild, PreschoolDementiaFemaleHumansMutationSyndromeCase ReportsEnglish AbstractJournal Article

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D Glaser, H Marx, I H Pawlowitzki. [Rett syndrome--case report].. https://doi.org/10.1055/s-2008-1026809

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