| Literature DB >> 7390033 |
P Curatolo, S Mercuri, E Cotroneo.
Abstract
The authors report a new case of Joubert syndrome (agenesis of the cerebellar vermis, mental retardation, disturbance of respiratory rhythm, ataxia, abnormal eye-movements) and review the relevant literature on the other nine cases reported. The diagnosis in the present case was confirmed by computerized tomography. Early recognition of this syndrome is important in view of the prognosis and for genetic counseling.Entities:
Mesh：
Year: 1980 PMID： 7390033 DOI： 10.1111/j.1469-8749.1980.tb03716.x
Source DB: PubMed Journal: Dev Med Child Neurol ISSN： 0012-1622 Impact factor: 5.449