Joubert Syndrome: a Case Confirmed by Computerized Tomography
- 1 June 1980
- journal article
- research article
- Published by Wiley in Developmental Medicine and Child Neurology
- Vol. 22 (3) , 362-366
- https://doi.org/10.1111/j.1469-8749.1980.tb03716.x
Abstract
A new case of Joubert syndrome (agenesis of the cerebellar vermis, mental retardation, disturbance of respiratory rhythm, ataxia and abnormal eye-movements) is reported and the literature on 9 other cases is reviewed. The diagnosis was confirmed by computerized tomography. Early recognition of this syndrome is important for prognosis and genetic counseling.This publication has 5 references indexed in Scilit:
- Agenesis of the Vermis Cerebelli and Malformations of the Posterior Fossa in Childhood and Adolescencemin - Minimally Invasive Neurosurgery, 1979
- Uncommon Syndromes of Cerebellar Vermis Aplasia. I: Joubert SyndromeDevelopmental Medicine and Child Neurology, 1978
- Vermian agenesis and unsegmented midbrain tectumJournal of Neurosurgery, 1977
- Joubert Syndrome: Episodic Hyperpnea, Abnormal Eye Movements, Retardation and Ataxia, Associated with Dysplasia of the Cerebellar VermisNeuropediatrics, 1977
- Familial agenesis of the cerebellar vermisNeurology, 1969