Fig. 3.

Brain abnormalities encountered in patients with pathogenic variants in USP7. Age at imaging ranged from full-term corrected to 17 years of life. Though a spectrum of findings was found, the splenium appeared smaller in all children with varying degrees of thinning and dysmorphism to the body of the corpus callosum. Overall, there appeared to be a generalized paucity of white matter with or without white matter T2 hyperintensities. Of note was marked symmetry to the hemispheres of all the children examined with a shallow pattern to the gyri. (a) Normal magnetic resonance image (MRI) for comparison. (b) Patient 3 (at 8 years). (c) Patient 13 (at 31 months). (d) Patient 14 (at 17 months). (e) Patient 15 (at 5 years). (f) Patient 16 (at 27 months). (g) Patient 17 (at 34 weeks’ gestation + 4 weeks of life). (h) Patient 18 (at 17 years).