Skip to main content
. Author manuscript; available in PMC: 2019 Nov 1.
Published in final edited form as: Am J Med Genet A. 2018 Sep 14;176(11):2404–2418. doi: 10.1002/ajmg.a.40482

Fig. 2: MRI findings on patient 1, 2 and 5.

Fig. 2:

Patient 1 (a/a1), Patient 2 (b/b1) MRI images obtained at 8 months of age. Patient 5 (c/c1) MRI obtained at 15 months of age. All 3 patients show similar microcephaly with simplified gyri and age appropriate myelin maturation. There is metric breaking in all, consistent with early suture closure. Sagittal T1W image (a) of patient 1 demonstrates a normal corpus callous, brainstem and vermis. Axial T2W image (a1) shows normal ventricular size. Sagittal T2W image (b) in patient 2 shows similar findings. Axial T2W image (b1) in patient 2 shows mild ventricular and pericerebral CSF prominence (correlate with HC in each). Sagittal T1W image (c) in patient 5 reveals very mild thinning of the corpus callosum, small cerebellar vermis and mildly prominent 4th ventricle. Axial T1W image (c1) in patient 5 demonstrates normal lateral and third ventricular size and pericerebral CSF spaces.