Figure 1.

MRI of Individuals with Brain Anomalies

Images of affected individuals are labeled with numbers as listed in Table 1, and there are two images for each individual. N represents a T1 sagittal midline (left) and a T2 axial (right) image of a healthy individual.

(1.1 and 1.2) T1 midline sagittal and T2 axial images taken at the age of 10 years show mild cerebellar vermis hypoplasia (black asterisk) and hyperintensity in the posterior limbs of the internal capsules (white arrows).

(8.1 and 8.2) T2 midline sagittal and axial images taken at the age of 3 years demonstrate very thin corpus callosum with hypoplasia of the rostrum and splenium (black arrows), cerebral atrophy with broad sulci, and reduced white-matter volume and cerebellar atrophy.

(9.1 and 9.2) T1 midline sagittal and T2 axial images taken at the age of 5 years show a thin corpus callosum (white arrows) and cerebellar and cerebral atrophy with white-matter volume loss.

(11.1 and 11.2) T2 midline sagittal and T1 IR axial images taken at the age of 3 years show a thin corpus callosum (white arrows) and mild cerebral atrophy with white-matter volume loss, predominantly in the occipital lobes, as well as enlarged lateral ventricles (white asterisk).

(12.1 and 12.2) T1 midline sagittal and axial images taken at the age of 26 months demonstrate short and thin corpus callosum but otherwise normal morphology.

(5.1 and 5.2) T2 axial image and a T1 sagittal image (viewed through the right sylvian fissure) taken at the age of 3 years show bilateral perisylvian polymicrogyria (arrow heads and triple arrows).

(6.1 and 6.2) T1 axial and T2 midline sagittal images taken at the age of 8 years show bilateral perisylvian polymicrogyria (white arrowheads) with otherwise unremarkable midline structures.