Pontocerebellar hypoplasia

Last revised by Ammar Ashraf on 22 Mar 2023

Pontocerebellar hypoplasia, also referred as pontocerebellar hypoplasia of Barth, is an autosomal recessive neurodegenerative disorder characterized by hypoplasia of the pons and cerebellum. This condition has 10 different described subtypes, all of them with a prenatal onset 3

History and etymology

Pontocerebellar hypoplasia was first described as a specific entity by a Dutch pediatric neurologist, Peter G Barth (fl. 2018) in 1990 4.

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