Case Reports
doi: 10.1007/s00431-004-1583-x.
Epub 2004 Nov 19.
Macrocephalic mental retardation associated with a novel C-terminal MECP2 frameshift deletion
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- PMID: 15558314
- DOI: 10.1007/s00431-004-1583-x
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Case Reports
Macrocephalic mental retardation associated with a novel C-terminal MECP2 frameshift deletion
Eur J Pediatr.
2005 Mar.
Abstract
We report a novel C-terminal MECP2 frameshift deletion (1135_1142delCCCGTG CC) in a 19-year-old woman with mental retardation and epilepsy. Preservation of language capabilities, purposeful hand use and sufficient locomotion implied an atypical variant of Rett syndrome (OMIM 312750). Occipito-frontal head circumference was large at birth (36 cm; SDS 1.7) and increased until adulthood (58.5 cm; SDS 2.3).
Conclusion: Our observation indicates that head size and head growth are of limited reliability in the diagnosis of MECP2-associated phenotypes.
Comment in
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Should a syndrome be called by its correct name? The example of the preserved speech variant of Rett syndrome.Eur J Pediatr. 2005 Nov;164(11):710; author reply 711-2. doi: 10.1007/s00431-005-1717-9. Epub 2005 Jul 12. Eur J Pediatr. 2005. PMID: 16010564 No abstract available.
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