X linked recessive inheritance of agenesis of the corpus callosum.
نویسنده
چکیده
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, also has agenesis of the corpus callosum demonstrated by CT scan. The implications for antenatal diagnosis are discussed.
منابع مشابه
X-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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عنوان ژورنال:
- Journal of medical genetics
دوره 20 2 شماره
صفحات -
تاریخ انتشار 1983