Neuroimaging aspects of Aicardi syndrome.

  title={Neuroimaging aspects of Aicardi syndrome.},
  author={Bobbi J Hopkins and Vernon Reid Sutton and Richard Alan Lewis and Ignatia B. van den Veyver and Gary B. Clark},
  journal={American journal of medical genetics. Part A},
  volume={146A 22},
Aicardi syndrome is a rare neurodevelopmental disorder characterized by congenital chorioretinal lacunae, corpus callosum dysgenesis, seizures, polymicrogyria, cerebral heterotopias, intracranial cysts, and costovertebral defects. Cerebellar abnormalities have been described occasionally. Aicardi syndrome is sporadic and has been observed only in females and 47,XXY males. Therefore, it is thought to result from a mutation in an X-linked gene. Improved definition of the clinical phenotype should… CONTINUE READING
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