====== Aicardi Syndrome ======
====Main Features====
  * Classic Triad: 
    - Infantile Spasms
    - Agenesis of the corpus callosum
    - Chorioretinal lacunae
====Eye Findings====
  * Anterior Segment: Microcornea with or without coloboma
  * Posterior Segment: Chorioretinal Lacunae radiating from optic disc most often
  * absence of neurosensory retina, attenuated choroid, RPE hyperplasia
  * Photoreceptor rosettes and photoreceptor inversions
  * Visual prognosis better without lacunae
  * Gross motor and language worse if many large lacunae
====Etiology====
  * Xp22 mutation
  * X-Linked Dominant
  * Lethal in Males
====Other Findings====
  * Neuro: Mental retardation, Characteristic EEG
  * ENT: Cleft Lip and Palate
  * Skin: Scalp lipomas, cavernous hemangiomas
  * Bone: Vertebral and rib abnormalities
====Reference====
  * [[http://omim.org/entry/304050|OMIM 304050]]
  * McMahon RG, Bell RA, Moore GRW, Ludwin SK. Aicardi's Syndrome, A Clinicopathologic Study. Arch Ophthalmol 102; 250-53,1984

{{tag>syndrome}}