Prevalence of neuroradiologic anomaliesa
| (N (%)) | All | FOXC1 | PITX2 | No Genetic Diagnosis |
|---|---|---|---|---|
| Thin optic chiasm | 5/12 (41.7) | 3/8 (37.5) | 2/2 (100) | 0/2 (0.0) |
| Nonspecific WM hyperintensities | 5/12 (41.7) | 4/8 (50.0) | 1/2 (50.0) | 0/2 (0.0) |
| Corpus callosal thinning | 4/12 (33.3) | 3/8 (37.5) | 0/2 (0.0) | 1/2 (50.0) |
| Ventriculomegaly or ventriculoperitoneal shunt | 4/12 (33.3) | 3/8 (37.5) | 0/2 (0.0) | 0/2 (0.0) |
| Hemispheric or global cerebellar hypoplasia | 5/12 (41.7) | 3/8 (37.5) | 1/2 (50.0) | 0/2 (0.0) |
| Oblong pons | 3/12 (25.0) | 2/8 (25.0) | 0/2 (0.0) | 1/2 (50.0) |
| Brainstem indentation secondary to tortuous vessels | 3/12 (25.0) | 3/8 (37.5) | 0/2 (0.0) | 0/2 (0.0) |
| Circle of Willis abnormalities | 3/12 (25.0) | 3/8 (37.5) | 0/2 (0.0) | 0/2 (0.0) |
| Vertebrobasilar artery dolichoectasia | 6/12 (50.0) | 6/8 (75.0) | 0/2 (0.0) | 0/2 (0.0) |
| Absent/hypoplastic olfactory bulb | 6/12 (50.0) | 5/8 (62.5) | 0/2 (0.0) | 1/2 (50.0) |
↵a Data are (No.) (%).