乔布综合征：一例经计算机断层扫描确诊的病例。

Joubert syndrome: a case confirmed by computerized tomography.

作者信息

Curatolo P, Mercuri S, Cotroneo E

出版信息

Dev Med Child Neurol. 1980 Jun;22(3):362-6. doi: 10.1111/j.1469-8749.1980.tb03716.x.

DOI:10.1111/j.1469-8749.1980.tb03716.x

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.

摘要

作者报告了一例新的Joubert综合征（小脑蚓部发育不全、智力发育迟缓、呼吸节律紊乱、共济失调、眼球运动异常）病例，并回顾了其他九例相关报道的文献。本病例的诊断通过计算机断层扫描得以证实。鉴于预后及遗传咨询的需要，早期识别该综合征很重要。