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Document Details
Document Type
:
Article In Journal
Document Title
:
Male Rett Syndrome Variant: Application of The Diagnostic Criteria.
متلازمة ريت لدى الذكور .
Document Language
:
English
Abstract
:
Background: Classic Rett syndrome (RS) has been described in females only. Although an X chromosome origin is probable, it has not been substantiated. It is possible therefore that RS could occur in males. Method: Case report of a male with RS and review of all the reported cases in the literature. We compare our case to the other cases, and examine the applicability of the classic RS diagnostic criteria to this variant. Results: To date, nine cases of male RS have been reported. We describe a further male who met 7 of 9 necessary criteria and 6 of 8 supportive criteria as defined by the RS Diagnostic Criteria Work Group. When we apply these criteria to the other 9 reported cases, many necessary inclusion criteria were not met despite the absence of exclusion criteria. The supportive criteria were even more variable and limited in many cases. Conclusions: Males with RS appear to represent a heterogeneous phenotype, with clinical features that may meet many but not all of the necessary diagnostic criteria of classic RS. Less restrictive criteria are needed to include this variant which should be considered when evaluating males with idiopathic developmental regression, autistic features, and loss of hand function.
ISSN
:
0930-2794
Journal Name
:
Pediatric Neurology
Volume
:
3
Issue Number
:
20
Publishing Year
:
1999 AH
1999 AD
Article Type
:
Article
Added Date
:
Saturday, March 13, 2010
Researchers
Researcher Name (Arabic)
Researcher Name (English)
Researcher Type
Dr Grade
Email
محمد جان
jan, Mohammed
Researcher
Doctorate
Files
File Name
Type
Description
25946.doc
doc
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