الانتقال الى المحتوى الأساسي

جامعة الملك عبدالعزيز

KING ABDULAZIZ UNIVERSITY

كلية الطب

تفاصيل الوثيقة

نوع الوثيقة : مقال في مجلة دورية 
عنوان الوثيقة :
متلازمة ريت لدى الذكور .
Male Rett Syndrome Variant: Application of The Diagnostic Criteria.
 
لغة الوثيقة : الانجليزية 
المستخلص : 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. 
ردمد : 0930-2794 
اسم الدورية : Pediatric Neurology 
المجلد : 3 
العدد : 20 
سنة النشر : 1999 هـ
1999 م
 
نوع المقالة : مقالة علمية 
تاريخ الاضافة على الموقع : Saturday, March 13, 2010 

الباحثون

اسم الباحث (عربي)اسم الباحث (انجليزي)نوع الباحثالمرتبة العلميةالبريد الالكتروني
محمد جانjan, Mohammed باحثدكتوراه 

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 25946.doc doc 

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