Figure 3.

Neuroimaging results in patient 2. (a–d) MRI age 8 months: T1W sagittal image (a) shows a thin corpus callosum with the lack of isthmus and a tapered splenium. The optic chiasm is atrophied or hypoplastic. T1W axial image (b) demonstrates age-appropriate gyral development. There is delay in myelin maturation, appropriate for 4–5 months of age. T2W axial (c) and coronal (d) reveals prominent lateral ventricles, particularly the frontal horns. The anterior pericerebral space is increased. (e–g) MRI at 5 years 2 months: T1W sagittal image (e) shows that corpus callosum remains thin, with a tapered splenium and with a lack of isthmus. The chiasm remains significantly small. The pituitary gland is small. Three-dimensional MRI surface reconstruction (f) reveals open mouth and mildly rotated pinna. T2W axial image (g) reveals age-appropriate myelin maturation. The white matter is thinned to a lesser degree than Child 1. The ventricles, particularly the frontal horns, remain prominent. T2W axial (h) view of the orbits demonstrates hypertelorism.