Rhombencephalosynapsis

A rare cerebellar malformation characterized by vermian agenesis or hypogenesis, and dorsal fusion of the cerebellar hemispheres and dentate nuclei, which may be explained by a defect in dorsal patterning at the midbrain-hindbrain border. Clinical findings range from mild truncal ataxia and normal cognitive abilities to severe cerebral palsy and mental retardation. Most cases are irregular and patients have a low life expectancy.

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