Mukherjee Bipasha, Alam Md Shahid
Department of Orbit, Oculoplasty, Reconstructive & Aesthetic Services, Sankara Nethralaya, Medical Research Foundation , Chennai , India.
Orbit. 2013 Oct;32(5):318-20. doi: 10.3109/01676830.2013.805788. Epub 2013 Jul 22.
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.
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.
the twins underwent therapeutic probing, which was successful in one and failed in the other. the second child was subsequently managed by external dacryocystorhinostomy.
To our knowledge, this is the first report of Blepharophimosis syndrome with congenital nasolacrimal duct obstruction occurring in twin sisters.
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。
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。
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。
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。