Fig.5.

Brain (A), retina (B) and kidney (C) findings in JS. A) Axial brain MRI in Joubert syndrome (JS) (left upper panel) showing the molar tooth sign (circle) and hypoplastic cerebellar vermis (arrows) compared to normal (right upper panel). Hypoplasia and dysplasia of the cerebellar vermis (circle) and enlarged fourth ventricle (asterisk) with rostral displacement of the fastigium in JS (left lower panel) compared to normal (right lower panel). B) A small (left) and forme fruste (right) coloboma in a patient with Joubert syndrome caused by mutations in TMEM67 (upper panel). Advanced retinal degeneration in a 17-year-old patient with JS with AHI1 genotype (lower panel). C) Kidney ultrasonography image of a 4-year-old with TMEM67-related Joubert syndrome showing enlarged and hyperechogenic left kidney (outlined by the dots) with loss of corticomedullary differentiation (upper image). Abdominal MRI of patient with AHI1-related Joubert syndrome demonstrating a left multicystic dysplastic kidney and normal right kidney (lower image).