De Jonghe M, Schroell M, Degremont-Weitzel C
Centre Hospitalier, Clinique Pédiatrique, Néonatologie, Luxembourg.
Bull Soc Sci Med Grand Duche Luxemb. 1994;131(2):19-23.
Joubert's syndrome is clinically characterized by attacks of tachypnea alternating with respiratory pauses, abnormal ocular movements, psychomotor retardation, and ataxia. Anatomic anomalies include cerebellar vermis agenesis with dilatation of the fourth ventricle. It is an autosomal recessive disorder; onset is in the neonatal period and prognosis is severe.
乔伯特综合征的临床特征为呼吸急促发作与呼吸暂停交替出现、异常眼球运动、精神运动发育迟缓及共济失调。解剖学异常包括小脑蚓部发育不全伴第四脑室扩张。这是一种常染色体隐性疾病,发病于新生儿期,预后严重。