Agenesis of corpus callosum: Clinical description and etiology

In 135 children (aged 3 months to 15 years) with structural defects of the central nervous system found on magnetic resonance imaging, agenesis of the corpus callosum was evident in 7. The etiology of agenesis of the corpus c allosum has been established in four children: partial trisomy of chromosom e 13, partial duplication of the long arm of chromosome 10, Aicardi's syndr ome, and intracranial bleeding during the fetal period as a result of injur y. Agenesis of the corpus callosum coexisted with a Dandy-Walker malformati on in one other patient, which suggests a genetic etiology. In spite of the se variable etiologies, dysmorphic features were identified in all seven pa tients, as was psychomotor retardation. Epileptic seizures had occurred in six patients, and all manifested abnormalities on neurologic examination.