先天性小睑裂综合征的病因及临床诊疗进展  

Research in etiology,diagnosis and treatment of blepharophimosis-ptosis-epicanthus inversus syndrome

作　　者：宋楠 张天宇 SONG Nan;ZHANG Tian-yu(Department of Facial Plastic and Reconstructive Surgery,Eye Ear Nose and Throat Hospital of Fudan University,Shanghai 200031, China)

机构地区：[1]复旦大学附属眼耳鼻喉科医院眼耳鼻整形外科,上海200031

出　　处：《中国眼耳鼻喉科杂志》2018年第3期167-170,共4页Chinese Journal of Ophthalmology and Otorhinolaryngology

摘　　要：先天性小睑裂综合征是一种少见的常染色体显性遗传疾病,典型的临床表现为睑裂狭窄、上睑下垂、逆向性内眦赘皮和内眦间距增宽四联症。其致病基因为FOXL2,定位于3q23。由于多种畸形存在,小睑裂综合征的手术治疗比较复杂。本文就近年来该病在病因、临床表现和手术治疗等方面的研究进展做一综述。Blepharophimosis-ptosis-epicanthus inversus syndrome （ BPES） is a rare autosomal-dominant genetic disease with a complex eyelid malformation characterized by 4 major features, including blepharophimosis, ptosis,epicanthus inversus,and telecanthus.It is produced by gene mutations of F0ZL2 which located at 3q23. The surgicaltreatment for BPES is complex due to the presence of multiple deformities. The advance in etiology,clinical manifestations and treatment of BPES.

关 键 词：小睑裂 小睑裂综合征 FOXL2 上睑下垂 内眦赘皮 

分 类 号：R779.6[医药卫生—眼科]