Abstract：
Congenital disorders of glycosylation type I (CDG-I) are a group of autosomal recessive genetic multisystem disorders that arise from defective glycoprotein biosynthesis. Although ocular abnormalities have been described in patients with CDG-I, few ocular abnormalities have been associated with ALG12-CDG (CDG-Ig), a rare subtype of CDG-I. We report a case of Duane syndrome, a congenital strabismus syndrome, in a 17-year-old young woman with ALG12-CDG.
摘要：
I型糖基化先天性疾病（CDG-I）是一组由糖蛋白生物合成缺陷引起的常染色体隐性遗传多系统疾病。尽管已经在CDG-I患者中描述了眼部异常，很少有眼部异常与ALG12-CDG（CDG-Ig）相关，一种罕见的CDG-I亚型我们报告一例Duane综合征,先天性斜视综合征,一名17岁的年轻女性患有ALG12-CDG。
