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Table 3:

Prevalence of neuroradiologic anomaliesa

(N (%))AllFOXC1PITX2No Genetic Diagnosis
Thin optic chiasm5/12 (41.7)3/8 (37.5)2/2 (100)0/2 (0.0)
Nonspecific WM hyperintensities5/12 (41.7)4/8 (50.0)1/2 (50.0)0/2 (0.0)
Corpus callosal thinning4/12 (33.3)3/8 (37.5)0/2 (0.0)1/2 (50.0)
Ventriculomegaly or ventriculoperitoneal shunt4/12 (33.3)3/8 (37.5)0/2 (0.0)0/2 (0.0)
Hemispheric or global cerebellar hypoplasia5/12 (41.7)3/8 (37.5)1/2 (50.0)0/2 (0.0)
Oblong pons3/12 (25.0)2/8 (25.0)0/2 (0.0)1/2 (50.0)
Brainstem indentation secondary to tortuous vessels3/12 (25.0)3/8 (37.5)0/2 (0.0)0/2 (0.0)
Circle of Willis abnormalities3/12 (25.0)3/8 (37.5)0/2 (0.0)0/2 (0.0)
Vertebrobasilar artery dolichoectasia6/12 (50.0)6/8 (75.0)0/2 (0.0)0/2 (0.0)
Absent/hypoplastic olfactory bulb6/12 (50.0)5/8 (62.5)0/2 (0.0)1/2 (50.0)
  • a Data are (No.) (%).