Cerebral cortical malformations include a diverse group of developmental disorders that are common causes of developmental disability and epilepsy including lissencephaly, pachygyria, polymicrogyria, and microcephaly. Numerous genes are associated with malformations of cortical developmental, which might disrupt each of the main stages of cell proliferation and specification, neuronal migration and late cortical organization. The disruption of these steps produces characteristic morphologic anomalies, typically abnormal sulcation and gyral patterns. Pontocerebellar hypoplasia (PCH) is a group of rare autosomal recessive neurodegenerative disorders with a prenatal onset, characterized by cerebellar hypoplasia in addition to varying degrees of atrophy of the cerebellum and pons. Cerebellar Vermis Hypoplasia (CVH) consists of isolated vermis hypoplasia and may also be called “Dandy-Walker variant” due to the phenotypic overlap with Dandy-Walker malformation (DWM). DWM includes vermis hypoplasia in addition to several other features such as enlarged posterior fossa.
This Comprehensive Brain Malformation Panel includes sequence and deletion/duplication analysis of over 125 genes associated with disorders of cerebral cortical development and cerebellar/pontocerebellar hypoplasia.
