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. 2021 Jun 28;108(8):1450–1465. doi: 10.1016/j.ajhg.2021.06.003

Figure 2.

Figure 2

Neuroanatomical differences appreciated on brain MRI

MRI of individual 3. 3a: Sagittal T1 weighted image shows complete absence of the corpus callosum, a hypoplastic pons and a prominent superior cerebellar peduncle (arrow). 3b: Coronal T2 weighted image also shows an absent corpus callosum. 3c: Axial T2 weighted image shows left plagiocephaly.

MRI of individual 6 at an unknown age. 6a: Axial T2 Blade showing increased gyral folding in the frontal lobes (circle). 6b: Sagittal T2 Blade showing increased gyral folding in the parasagittal frontal lobe (circle).

MRI of individual 7 at 2 years. 7a: Sagittal 3D FLASH in the midline showing small posterior body and splenium of the corpus callosum (arrows). 7b: Sagittal 3D FLASH of the right hemisphere showing increased gyral folding in the frontal lobes (circle).

MRI of individual 8 as an infant. 8a: Sagittal T1 showing hypoplastic pons (∗), aqueductal stenosis (thin arrow), and small vermis (thick arrow). 8b: Axial inversion recovery T1 showing hypoplastic pons (∗) and small cerebellar hemispheres (arrowheads).

MRI of individual 9 at 11 months. 9a: Sagittal MPRAGE shows thin corpus callosum, particularly the anterior body and genu (arrows). 9b: Coronal T2 TSE with incompletely rotated hippocampi (arrows). 9c: Axial T2 TSE showing delayed myelination (myelination should be seen in the gyri throughout the posterior temporal and occipital lobe and decreased white matter volume shown by arrows).

MRI of individual 10.1 as a neonate. 10.1a: Sagittal T2 showing hypoplastic thin corpus callosum (arrows). 10.1b: Coronal reformation of sagittal MPGR showing small incompletely rotated hippocampi (arrows). 10.1c: Axial T2 showing lack of myelin in the posterior limb internal capsule (thick arrows) and decreased white matter volume (thin arrows).

MRI of individual 10.2 as a neonate. 10.2a: Sagittal MPGR showing hypoplastic thin corpus callosum (arrow). 10.2b: Coronal T2 TSE showing small incompletely rotated hippocampi (arrows). 10.2c: Axial T2 TSE showing lack of myelin in the posterior limb internal capsule (thick arrows) and decreased white matter volume (thin arrows).