Fig. 3
From: Genomic and phenotypic delineation of congenital microcephaly
Representative magnetic resonance images (MRI) for the cases with pathogenic variant in microcephaly primary hereditary (MCPH) genes and other genes highlighted in this study. (a) Case 13DG0605 with pathogenic variant in ASPM showing pachygyria. (b) Case 15DG1001 with pathogenic variant in MFSD2A showing hydrocephaly. (c) Case 17DG0679 with a pathogenic variant in STIL showing the partial agenesis of the corpus callosum and pachygyria. (d, e) Case 17DG0680 with a pathogenic variant in CEP152 showing polymicrogyria, severe callosal hypogenesis with interhemispheric cyst at left aspect of the falx compressing the left cerebral hemisphere continuous with the third ventricle, and mild dilatation of the lateral ventricles. (f) Case 15DG0077 with a pathogenic variant in BRCA2 showing hypoplastic corpus callosum. (g) Case 13DG0152 with a pathogenic variant in DDX11 showing hypoplastic corpus callosum. (h) Case 12DG1528 with a pathogenic variant in SPDL1 showing virtually no brain in computed tomography (CT) scan. (i) Case with a pathogenic variant in ANKLE2 showing sloping of the forehead along with simplified gyration, partial agenesis of the corpus callosum, and hypoplastic cerebellum.
