X-Linked Lissencephaly with ARX Mutations, Abnormal Genitalia, and Corpus Callosum Agenesis
نویسندگان
چکیده
منابع مشابه
X-Linked Lissencephaly With Absent Corpus Callosum and Abnormal Genitalia
X-linked lissencephaly with absent corpus callosum and abnormal genitalia (XLAG) is caused by a mutation in the ARX gene. We herein report the clinical course of siblings with XLAG with a splicing mutation in ARX. Seizures were observed in utero. Cerebral atrophy was progressive postnatally, and fetal echoencephalography indicated that the atrophy might have started in the prenatal period. They...
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...
متن کاملX-linked lissencephaly with absent corpus callosum and ambiguous genitalia.
Lissencephaly has been described in over 10 distinct malformation syndromes. Recently, we have recognized 5 children from four unrelated families with an almost identical disorder comprising lissencephaly with a posterior-to-anterior gradient and only moderate increase in thickness of the cortex, absent corpus callosum, neonatal-onset epilepsy, hypothalamic dysfunction including deficient tempe...
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...
متن کاملX linked recessive inheritance of agenesis of the corpus callosum.
A 2-year-old boy with psychomotor retardation, congenital unilateral ptosis, bilateral adducted thumbs, weakness of upper limbs, and Hirschsprung's disease (aganglionosis), with complete agenesis of the corpus callosum and hypoplasia of the inferior vermis and cerebellum is reported. His 24-year-old maternal uncle, with severe psychomotor retardation but none of the other physical problems, als...
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ژورنال
عنوان ژورنال: Pediatric Neurology Briefs
سال: 2003
ISSN: 2166-6482,1043-3155
DOI: 10.15844/pedneurbriefs-17-8-3