Molar Tooth Sign in Fetal Brain Magnetic Resonance Imaging Leading to the Prenatal Diagnosis of Joubert Syndrome and Related Disorders

Abstract excerpt

Joubert syndrome is a rare autosomal recessive disorder characterized by ataxia, developmental delay, and oculomotor and respiratory abnormalities in relation to cerebellar vermian and midbrain dysgenesis. The midbrain dysgenesis is responsible for the molar tooth sign on axial magnetic resonance imaging (MRI). This classic hallmark of Joubert syndrome has been identified in other disorders sharing overlapping...

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