摘要:
Joubert综合征(Joubert syndrome, JS)是一种较为罕见的脑干及小脑蚓部先天性发育畸形，属于常染色体隐性遗传性疾病，该病可合并其它器官功能异常，即JS及相关畸形(Joubert Syndrome and Related Disorders, JSRD)，如视网膜营养不良、肾囊肿、肝纤维化、多指畸形等[1]。在我国已有几例个案报道，但多未见合并其它器官异常，本例Joubert综合征有合并视网膜发育不良，本文结合相关文献进行讨论。
Abstract: Joubert syndrome (JS) is a rare autosomal recessive congenital malformation of the brainstem and cerebellar vermis，which may be associated with other organ dysfunction (Joubert Syndrome and Related Disorders, JSRD), mainly as retinal dystrophy, nephronophthisis, hepatic fibrosis and polydactyly. It had been reported in the previous literature in our country, however, most do not mention other organ dysfunction. In the following case complicated with retinal dysplasia was discussed with relate literature.