New to MyHealth?
Manage Your Care From Anywhere.
Access your health information from any device with MyHealth. You can message your clinic, view lab results, schedule an appointment, and pay your bill.
ALREADY HAVE AN ACCESS CODE?
DON'T HAVE AN ACCESS CODE?
NEED MORE DETAILS?
MyHealth for Mobile
Abstract
A characteristic malformation of the cerebellum, including dysgenesis of the vermis and enlargement of the fourth ventricle was observed on computed tomography (CT) in 16 children on review of our consecutive material. Seven of these children underwent magnetic resonance imaging (MRI) which showed hypoplasia of the brainstem in addition to cerebellar vermian dysgenesis. One child had, in addition, dysgenesis of the corpus callosum. All these children were developmentally delayed, and many had neonatal breathing abnormalities, congenital retinal dystrophy and supranuclear ocular motor abnormalities. Joubert's syndrome should be suspected in children in whom dysgenesis of the cerebellar vermis and hypoplasia of the brainstem is shown on CT or MRI.
View details for Web of Science ID A1990CL09000008
View details for PubMedID 2352633