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双重困境:双胞胎中的睑裂狭小综合征合并先天性鼻泪管阻塞

Double jeopardy: Blepharophimosis syndrome with congenital nasolacrimal duct obstruction in twins.

作者信息

Mukherjee Bipasha, Alam Md Shahid

机构信息

Department of Orbit, Oculoplasty, Reconstructive & Aesthetic Services, Sankara Nethralaya, Medical Research Foundation , Chennai , India.

出版信息

Orbit. 2013 Oct;32(5):318-20. doi: 10.3109/01676830.2013.805788. Epub 2013 Jul 22.

Abstract

PURPOSE

Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) is an autosomal dominant disorder characterized by bilateral ptosis with poor levator function, epicanthus inversus and shortened horizontal palpebral fissures.

METHOD

Eighteen -month -old twin sisters presented with history of watering from their left eyes since birth. Examination revealed features of BPES with left congenital nasolacrimal duct obstruction in both.

RESULT

the twins underwent therapeutic probing, which was successful in one and failed in the other. the second child was subsequently managed by external dacryocystorhinostomy.

CONCLUSION

To our knowledge, this is the first report of Blepharophimosis syndrome with congenital nasolacrimal duct obstruction occurring in twin sisters.

摘要

目的

睑裂狭小-上睑下垂-内眦赘皮综合征(BPES)是一种常染色体显性疾病,其特征为双侧上睑下垂且提上睑肌功能差、内眦赘皮以及睑裂水平缩短。

方法

一对18个月大的双胞胎姐妹自出生起左眼就有流泪史。检查发现两人均有BPES特征且伴有左侧先天性鼻泪管阻塞。

结果

这对双胞胎接受了治疗性探查,其中一人成功,另一人失败。第二个孩子随后接受了外路泪囊鼻腔吻合术。

结论

据我们所知,这是首例关于双胞胎姐妹患睑裂狭小综合征并伴有先天性鼻泪管阻塞的报道。

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