Joubert综合征合并视网膜发育不良1例
A Case of Joubert Syndrome with Retinal Dysplasia
作者: 王淋淋 ：广东医学院，湛江; 黄宇戈 ：广东医学院附属医院儿科，湛江;
关键词: Joubert综合征； 视网膜发育不良； 脑部疾病； 眼科学； Joubert Syndrome； Retinal Hypoplasia； Cerebral Disease； Ophthalmology
摘要: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.
文章引用: 王淋淋 , 黄宇戈 (2013) Joubert综合征合并视网膜发育不良1例。 眼科学， 2， 7-9. doi: 10.12677/HJO.2013.22002
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