Fig. 1
a Ultrasound at 26 + 6 weeks of gestation showing an abnormal enlarged fourth ventricle (red asterisk) and the ventricle floor is abnormal. b Photographs of the face (left image) and right profile (middle image) showing typical facial features of Joubert syndrome including prominent forehead, high arched eyebrows, bilateral ptosis, hypertelorism, lower lip eversion (left and middle image), mild clinodactyly of the fifth finger and tapered fingers (right image). c Axial MRI through the cerebellum and brain stem showing cerebellar vermis hypoplasia, thick and elongated superior cerebellar peduncles (red arrows, left image) and absence of the cerebellar vermis, deep interpeduncular fossa and the fourth ventricle has a bat-wing configuration (red arrows, right image)