Newborn with ambigous genitalia and refractory convulsions: Case report of XLAG syndrome
نویسندگان
چکیده
منابع مشابه
Lissencephaly, abnormal genitalia and refractory epilepsy: case report of XLAG syndrome.
INTRODUCTION X-linked lissencephaly with ambiguous genitalia (XLAG) is a recently described genetic disorder caused by mutation in the aristaless-related homeobox (ARX) gene (Xp22.13). Patients present with lissencephaly, agenesis of the corpus callosum, refractory epilepsy of neonatal onset, acquired microcephaly and male genotype with ambiguous genitalia. CASE REPORT Second child born to he...
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متن کاملX-Linked Lissencephaly with Absent Corpus Callosum and Ambiguous Genitalia: A Case Report
Background: X-linked lissencephaly with ambiguous genitalia (XLAG) is a recently described genetic disorder, in which patients present with lissencephaly, agenesis of the corpus callosum, refractory epilepsy of neonatal onset, acquired microcephaly, and male genotype with ambiguous genitalia. XLAG is responsible for a severe neurological disorder of neonatal onset in boys. A gyration defect con...
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ژورنال
عنوان ژورنال: Journal of Family Medicine and Primary Care
سال: 2020
ISSN: 2249-4863
DOI: 10.4103/jfmpc.jfmpc_922_20