X linked recessive inheritance of agenesis of the corpus callosum.
AUTOR(ES)
Kaplan, P
RESUMO
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.
ACESSO AO ARTIGO
http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=1049013Documentos Relacionados
- Hypohidrotic ectodermal dysplasia, primary hypothyroidism, and agenesis of the corpus callosum.
- Lipoma of the corpus callosum.
- Orofaciodigital syndrome type I associated with polycystic kidneys and agenesis of the corpus callosum.
- Status epilepticus, hypothermia and metabolic chaos in a man with agenesis of the corpus callosum.
- Diabetes insipidus with impaired osmotic regulation in septo-optic dysplasia and agenesis of the corpus callosum.