Prenatal Diagnosis and Genetic Analysis of a Fetus with Joubert Syndrome

Figure 1

Clinical features of the fetus. (a) The sagittal ultrasound image shows hypoplasia of the cerebellar vermis and a triangular shaped fourth ventricle. (b) The axial ultrasound image shows a 'bat-wing'-shaped superior fourth ventricle. (c) The sagittal MRI image shows vermian agenesis and hypoplastic superior cerebellar peduncle. The axial T2-weighted (d) and diffusion-weighted (e) MRI images show prominent interpeduncular fossa and a deep cleft between thickened cerebellar peduncles comprising the molar tooth sign, as indicated by the arrows. After artificial abortion, polydactyly of both feet (f) and left hand (g) was noted, and the brain autopsy revealed the molar tooth sign (h, i). CV: cerebellar vermis, BS: brainstem, FV: fourth ventricle, CSP: cavum septi pellucidi.

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