Neuropathological hallmarks of fetal hydrocephalus linked to CCDC88C pathogenic variants

Neuropathological hallmarks of fetal hydrocephalus linked to CCDC88C pathogenic variants

Abstract The prevalence of congenital hydrocephalus has been estimated at 1.1 per 1000 infants when including cases diagnosed before 1 year of age after exclusion of neural tube defects. Classification criteria are based either on CSF dynamics, pathophysiological mechanisms or associated lesions. Wh...

Full description

Bibliographic Details
Main Authors: Florent Marguet, Myriam Vezain, Pascale Marcorelles, Séverine Audebert-Bellanger, Kévin Cassinari, Nathalie Drouot, Pascal Chambon, Bruno J. Gonzalez, Arie Horowitz, Annie Laquerriere, Pascale Saugier-Veber
Format: Article
Language:English
Published: BMC 2021-06-01
Series:Acta Neuropathologica Communications
Subjects:
CCDC88C pathogenic variants
Autosomal recessive inheritance
Foetal hydrocephalus
Neuropathology
Multiple ependymal malformations
Choroid plexus hydrops
Online Access:https://doi.org/10.1186/s40478-021-01207-5

Internet

https://doi.org/10.1186/s40478-021-01207-5

Similar Items