EC Neurology

Joubert syndrome (JS) is a recessive neurodevelopmental disorder characterized by midbrain-hindbrain malformation recognizable on axial brain magnetic resonance imaging with the so called “Molar Tooth Sign”. Although the radiological hallmark of JB is neurological, the variable involvement of a spectrum of multiorgan abnormalities is also described from the neonatal period, and that include mainly the retina, kidneys, skeleton, and liver. Recent genetic research have incriminated 21 genes so far, all of which encode for proteins of the primary cilium or its apparatus.

 Keywords: Corpus Callosum Agenesis; Joubert Syndrome; Molar Tooth Sign; Magnetic Resonance Imaging

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