Differences
This shows you the differences between two versions of the page.
| Next revision | Previous revision | ||
| aicardi_syndrome [2015/06/20 16:33] – created admin | aicardi_syndrome [2025/04/18 20:40] (current) – external edit 127.0.0.1 | ||
|---|---|---|---|
| Line 1: | Line 1: | ||
| ====== Aicardi Syndrome ====== | ====== Aicardi Syndrome ====== | ||
| - | =====Main Features===== | + | ====Main Features==== |
| * Classic Triad: | * Classic Triad: | ||
| - | | + | |
| - | - Agenesis of the corpus callosum | + | - Agenesis of the corpus callosum |
| - | - Chorioretinal lacunae | + | - Chorioretinal lacunae |
| - | + | ====Eye Findings==== | |
| - | =====Eye Findings====== | + | |
| * Anterior Segment: Microcornea with or without coloboma | * Anterior Segment: Microcornea with or without coloboma | ||
| * Posterior Segment: Chorioretinal Lacunae radiating from optic disc most often | * Posterior Segment: Chorioretinal Lacunae radiating from optic disc most often | ||
| Line 15: | Line 12: | ||
| * Visual prognosis better without lacunae | * Visual prognosis better without lacunae | ||
| * Gross motor and language worse if many large lacunae | * Gross motor and language worse if many large lacunae | ||
| - | =====Etiology===== | + | ====Etiology==== |
| * Xp22 mutation | * Xp22 mutation | ||
| * X-Linked Dominant | * X-Linked Dominant | ||
| * Lethal in Males | * Lethal in Males | ||
| - | + | ====Other Findings==== | |
| - | =====Other Findings===== | + | |
| * Neuro: Mental retardation, | * Neuro: Mental retardation, | ||
| * ENT: Cleft Lip and Palate | * ENT: Cleft Lip and Palate | ||
| * Skin: Scalp lipomas, cavernous hemangiomas | * Skin: Scalp lipomas, cavernous hemangiomas | ||
| * Bone: Vertebral and rib abnormalities | * Bone: Vertebral and rib abnormalities | ||
| - | + | ====Reference==== | |
| - | =====Reference===== | + | |
| * [[http:// | * [[http:// | ||
| * McMahon RG, Bell RA, Moore GRW, Ludwin SK. Aicardi' | * McMahon RG, Bell RA, Moore GRW, Ludwin SK. Aicardi' | ||
| {{tag> | {{tag> | ||