Figure 1.

Prevalence of clinical findings, neuroimaging features, and X-ray of the fetus

(A) Prevalence of phenotypic features in the cohort grouped by clinical categories.

(B) Fetus, 25^th gestational week: X-ray babygram postmortem showing macroscopic intracranial calcifications (arrows).

(C) Exemplary MRI and CT images. a) Individual 2, MRI, age 5 years, T2-FLAIR axial: pronounced leukoencephalopathy with hyperintensities of the white matter, paucity of the white matter, consecutive ventriculomegaly. b) Individual 2, CT, age 5 years: bilateral symmetrical calcifications periventricular and in the basal ganglia (arrows). c) Individual 3-3, MRI, age 3 days, T2-TSE coronal: moderate ventriculomegaly with accentuation of the occipital horn and pachygyria with thickening of the occipitotemporal cortex (arrow). d) Individual 3-3, CT, age 3 days, bilateral calcifications periventricular and in the deep white matter (arrows). e) Individual 4, MRI, age 3 months, T2-TSE coronal: severe paucity of the white matter and consecutive ventriculomegaly, bilateral pachygyria, and thickening of the parietal cortex (arrows). f) Individual 4, CT, age 3 months: bilateral symmetrical calcifications periventricular and in the basal ganglia (arrows). g) Individual 8, MRI, age 6 months, T2-TSE coronal: ventriculomegaly, pachygyria with thickening of the cortex (asterisk), and periventricular gray matter heterotopia (arrow). h) Individual 12, MRI, age 5 years, T2-FLAIR axial: ventriculomegaly, leukoencephalopathy, paucity of the white matter, and thickening of the cortex (arrow).