Ontology highlight
ABSTRACT:
SUBMITTER: Ganau M
PROVIDER: S-EPMC6805786 | biostudies-literature | 2019
REPOSITORIES: biostudies-literature
Eye and brain 20191018
Septo-optic dysplasia (SOD), also known as de Morsier syndrome, is a rare congenital disorder belonging to the group of mid-line brain malformations. Despite the highly variable phenotypic penetration, its classical triad include a) optic nerve hypoplasia (ONH), b) agenesis of septum pellucidum and corpus callosum, and c) hypoplasia of the hypothalamo-pituitary axis. SOD has stringent diagnostic criteria requiring 2 or more features of the classic triad, therefore it represents a separate entity ...[more]