title: Pontocerebellar hypoplasia.
abstract: Pontocerebellar hypoplasia (PCH) is a clinically and genetically heterogeneous group of autosomal recessively inherited neurodevelopmental disorders. Following the rapidly increasing number of genes identified in different subtypes, the clinical spectrum has been broadened to completely different neurological phenotypes. In this review we will address the clinical picture, neuroradiological, pathoanatomic, and genetic findings in the currently known PCH subtypes.
authors.forename: Sabine
authors.initials: S
authors.lastname: Rudnik-Schöneborn
authors.forename: Peter G
authors.initials: PG
authors.lastname: Barth
authors.forename: Klaus
authors.initials: K
authors.lastname: Zerres
mesh_terms: D002526:Cerebellar Diseases / Q000145:classification / Q000235:genetics / Q000473:pathology; D002531:Cerebellum / Q000503:physiopathology; D003937:Diagnosis, Differential; D006801:Humans; D008279:Magnetic Resonance Imaging; D059906:Neuroimaging; D010641:Phenotype
keywords: classification; genetics; pontocerebellar hypoplasia