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Figure 3 | Orphanet Journal of Rare Diseases

Figure 3

From: A mutation in KIF7 is responsible for the autosomal recessive syndrome of macrocephaly, multiple epiphyseal dysplasia and distinctive facial appearance

Figure 3

MRI features in the family. Identifications corresponding to Figure1 are indicated above midline sagittal (top) and axial (bottom) images. For IV-19 only axial CT was available. Images show severe thinning of the corpus callosum in IV-2, IV-4 and IV-19. In IV-19 the corpus callosum is probably completely absent. Bottom images show ventriculomegaly (white spaces) and no evidence of a “Molar tooth” sign was evident on brain imaging.

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