Joubert syndrome and related disorders: prenatal diagnosis with ultrasound and magnetic resonance imaging

Joubert syndrome is an autosomal recessive disorder characterized by intellectual disability, hypotonia, ataxia, tachypnea/apnea, and abnormal eye movements. A pathognomonic midbrain-hindbrain malformation seen on cranial magnetic resonance imaging (MRI), which consists of hypoplasia of the midline cerebellar vermis that resembles the cross-section through a molar tooth, was described previously. The term Joubert Syndrome and Related Disorders (JSRD) has been recently adopted to describe all disorders presenting the "molar tooth sign” on brain imaging. Prenatal sonographic findings in fetuses with JSRD are relatively nonspecific and include increased nuchal translucency, enlarged cisterna magna, cerebellar vermian agenesis, occipital encephalocele, ventriculomegaly and polydactyly. We report a case of JSRD detected prenatally at 23 weeks of gestation. The fetus in the present case had a normal karyotype. Sonographic features of the fetus included polydactyly, partial vermian agenesis, dilated fourth ventricle and mild ventriculomegaly that were confirmed by prenatal MRI. Molar tooth sign was demonstrated in postnatal MRI after pregnancy termination.

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