Figure 1From: Whole-exome sequencing identifies a de novo TUBA1A mutation in a patient with sporadic malformations of cortical development: a case reportBrain magnetic resonance imaging of the patient. T2-weighted sagittal (A) and T1-weighted axial (B) images at 6Â days after birth indicate hypoplastic vermis of the cerebellum, cortical dysgenesis with a simplified gyral pattern, and dilatation of the lateral ventricles. T1-weighted (C and E) and T2-weighted (D and F) axial images at 3Â months of age indicate colpocephalic appearance associated with dilatation of the lateral ventricles. Cortical gyration is poor and reduced volume of the white matter is apparent.Back to article page