Figure 8.

Representative brain MRI findings in individuals with Dup7. (A) Sagittal and (B) axial images of patient #1 showing thin corpus callosum and white matter, with mildly dilated lateral ventricles. (C) Sagittal and (D) axial images of patient #5 showing cerebellar vermis hypoplasia, thin corpus callosum and white matter, and increased cortical extra-axial space. (E) Sagittal and (F) axial images of patient #9 showing collapsed ventricles status post ventricular peritoneal shunting for hydrocephalus, and mildly increased extra-axial space in the posterior fossa. (G) Sagittal and (H) axial images of patient #12 showing normal brain morphology. (I) Sagittal and (J) axial images of patient #13 showing rounded corpus callosum, thin white matter, mild dilation of the lateral ventricles, and mild cerebellar vermis hypoplasia. (K) Sagittal and (L) axial images of patient #15 showing rounded corpus callosum, moderate dilation of the lateral ventricles, and thin white matter. There is also mild cerebellar tonsillar ectopia. (M) Sagittal and (N) axial images of patient #22 showing mild asymmetry of the lateral ventricles, probably due to mildly thin white matter, but otherwise normal brain morphology. (O) Sagittal and (P) coronal images of patient #23 showing increased extra axial spaces around both the cortex and in the posterior fossa. (Q) Sagittal and (R) axial images of patient #26, showing cerebellar vermis hypoplasia, and extra axial fluid collection in the posterior fossa. (S) Sagittal and (T) axial images of patient #29 showing mildly thin white matter, mildly dilated lateral ventricles, and cerebellar vermis hypoplasia with an extra axial fluid collection in the posterior fossa. (U) Sagittal and (V) axial images of patient #56 showing rounded corpus callosum, thin white matter, and moderately dilated lateral ventricles. The cerebellar vermis is mildly hypoplastic.