Brain MRI sections in patients with JSRD. A) mid-sagittal T1-weighted image shows a thin midbrain with corresponding enlargement of the interpeduncular fossa (open arrowhead). There is concurrent superior vermian dysplasia (thin arrows); B) parasagittal T1-weighted image shows thickened and maloriented superior cerebellar peduncle (thick arrowheads); C) axial T1-weighted image confirms the deepened interpeduncular fossa (open arrowhead) and abnormal superior cerebellar peduncles (thick arrowheads), comprising the "molar tooth sign"; D) coronal FLAIR image shows midline cerebellar cleft (black arrows) indicating agenesis of the inferior vermis.
Brancati et al. Orphanet Journal of Rare Diseases 2010 5:20 doi:10.1186/1750-1172-5-20