Distinctive Brain Malformations in Zhu-Tokita-Takenouchi-Kim Syndrome

Brain MR images depicting additional brain anomalies in a cohort of 7 unrelated individuals with ZTTK syndrome. A, Sagittal midline T2-weighted MRI of the brain of individual 4 at 1 year 4 months of age showing a thin corpus callosum (white arrowheads), an elongated pituitary stalk (black arrowhead), and small pituitary gland. B, Sagittal midline T1-weighted MRI of the brain of individual 5 at 1 year 8 months of age showing an elongated pituitary stalk (black arrowhead) and a small pituitary gland. C, Sagittal midline T1-weighted MRI of the brain of individual 6 at 15 years 2 months of age showing a shortened corpus callosum with a hypoplastic anterior and posterior body (white arrowheads), a normal-sized pituitary stalk, and a normal-sized pituitary gland. D, Coronal T2-weighted MRI of the brain of individual 5 at 1 year 8 months of age revealing normal-sized hippocampi with a lack of internal architecture (white arrowheads). E, Coronal T2-weighted MRI of the brain of individual 2 at 11 years 6 months of age revealing small malrotated hippocampi (white arrowheads). F, Sagittal midline T1-weighted MRI of the brain of individual 1 at 7 years 7 months of age showing a box-shaped posterior fossa (white dashed lines) and a shortened corpus callosum with a hypoplastic posterior body, isthmus, and splenium (black arrow). G, Sagittal midline T2-weighted MRI of the brain of individual 2 at 11 years 6 months of age showing a box-shaped posterior fossa (white dashed lines) with a posterior fossa cyst (black star) and dysmorphic cerebellar tonsils (white arrowhead). H, Sagittal midline T1-weighted MRI of the brain of individual 3 at 1 year of age shows a large cerebellum. I, Right parasagittal T1-weighted MRI of the brain of individual 2 at 11 years 6 months of age revealing perisylvian polymicrogyria with upswept Sylvian fissures (white arrowhead). J, Right parasagittal T1-weighted MRI of the brain of individual 6 at 15 years 2 months of age revealing a thick perisylvian cortex and dysgyria (white arrowheads). K, Axial T1-weighted MRI of the brain of a control individual depicting caudate nuclei with caudate heads (white arrowheads) that are less rounded than in L and M. L, Axial T2-weighted MRI of the brain of individual 2 at 11 years 6 months of age revealing a dysmorphic caudate nucleus with rounded and malrotated caudate heads (white arrowheads), large dysmorphic frontal and occipital horns, and a bilaterally thickened perisylvian cortex (black arrowheads). M, Axial T1-weighted MRI of the brain of individual 1 at 7 years 7 months of age revealing dysmorphic caudate nuclei with rounded and malrotated caudate heads (white arrowheads) and large dysmorphic frontal horns. N, Axial T2-weighted MRI of the brain of individual 4 at 1 year 4 months of age revealing bilateral posterior perisylvian polymicrogyria (white arrowheads). O, Axial T1-weighted MRI of the brain of individual 3 at 1 year of age revealing a thick perisylvian cortex and dysgyria (white arrowheads).