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content:aicardi_syndrome [2020/02/13 13:28] – [Genetics] icna | content:aicardi_syndrome [2022/04/29 23:58] – [Genetics] administrator@icnapedia.org | ||
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====== Aicardi syndrome ====== | ====== Aicardi syndrome ====== | ||
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A rare neurodevelopmental disorder characterized by the classic triad of agenesis of the corpus callosum (total or partial), central chorioretinal lacunae and infantile spasms that affects almost exclusively females & rarely in 47 XXY males. However Aicardi syndrome is now recognized as a more complex, pleiotropic disorder with an expanded spectrum of phenotypical features. | A rare neurodevelopmental disorder characterized by the classic triad of agenesis of the corpus callosum (total or partial), central chorioretinal lacunae and infantile spasms that affects almost exclusively females & rarely in 47 XXY males. However Aicardi syndrome is now recognized as a more complex, pleiotropic disorder with an expanded spectrum of phenotypical features. | ||
===== Clinical features ===== | ===== Clinical features ===== | ||
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* The presence of two classical features in addition to at least two major or supporting features is strongly suggestive of a diagnosis of Aicardi syndrome | * The presence of two classical features in addition to at least two major or supporting features is strongly suggestive of a diagnosis of Aicardi syndrome | ||
==== Genetics ==== | ==== Genetics ==== | ||
- | Nearly all reported cases of Aicardi syndrome are sporadic and in females. The disorder is believed to result from new gene mutations. Aicardi syndrome is classified as an X-linked dominant condition[{{ : | + | * Nearly all reported cases of Aicardi syndrome are sporadic and in females |
+ | * Aicardi syndrome is classified as an X-linked dominant condition[{{ : | ||
+ | * mutation in gene [[https:// | ||
=== Neuroimaging === | === Neuroimaging === | ||
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=== History === | === History === | ||
- | In 1965 French pediatric neurologist and epileptologist [[https:// | + | In 1965 French pediatric neurologist and epileptologist [[https:// |
===== References ===== | ===== References ===== | ||
~~REFNOTES cite~~ | ~~REFNOTES cite~~ |