Aicardi syndrome

Aicardi syndrome is a rare severe developmental disorder. It results from an X-linked genetic defect that is fatal in males and therefore only manifests in females (except for rare 47-XXY cases).

The typical presentation in infancy is with a triad of:

Characteristic malformations affect the brain, spine and eyes and include:

First described in 1961 by Jean Francois Aicardi, French paediatrician born in 1926 2.

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Article information

rID: 5377
Section: Syndromes
Synonyms or Alternate Spellings:
  • Aicardi's syndrome

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Cases and figures

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    Case 1: showing agenesis of corpus callosum
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    Case 1: showing grey matter heterotopia
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