TABLE 1.
Synthesis of prenatal and postnatal classic triad, major and supporting features associated with Aicardi syndrome
| Aicardi syndrome features | Prenatal, n | Postnatal, n | |||
|---|---|---|---|---|---|
| Classic triad | Dys/a‐genesis of corpus callosum | 19/20 | (95%) | 19/20 | (95%) |
| Distinctive chorioretinal lacunae | NA | 20/20 | (100%) | ||
| Spasms | 02/20 | (10%) | 14/15 | (93%) | |
| Major features | Cortical malformations (polymycrogyria, pachgyria, agyria) | 16/17 | (94%) | 18/20 | (90%) |
| Periventricular and subcortical heterotopia | 15/17 | (88%) | 18/20 | (90%) | |
| Inter‐hemispheric cysts | 20/20 | (100%) | 20/20 | (100%) | |
| Optic disc/nerve coloboma or hypoplasia | 7/11 | (64%) | 11/20 | (55%) | |
| Distorsion of the inter‐hemispheric fissure | 20/20 | (100%) | 20/20 | (100%) | |
| Supporting features | Ventriculomegaly (>10 mm) | 14/20 | (70%) | 14/20 | (70%) |
| Cerebral hemispheric asymmetry | 14/20 | (70%) | 16/20 | (80%) | |
| Microphtalmia | 7/11 | (64%) | 9/20 | (45%) | |
| Posterior fossa abnormalities | 7/20 | (35%) | 7/20 | (35%) | |
| Vertebral and costal abnormalities | 4/20 | (20%) | 7/20 | (35%) | |
| Vascular malformations or tumor | 1/20 | (5%) | 1/20 | (5%) | |
| Facial dysmorphic features | 4/10 | (40%) | 20/20 | (100%) | |