Suppr超能文献

患有睑裂狭小-上睑下垂-内眦赘皮综合征儿童的单侧前部永存胎儿血管:一项手术挑战。

Unilateral anterior persistent fetal vasculature in a child with blepharophimosis-ptosis-epicanthus inversus syndrome: A surgical challenge.

作者信息

Kemmanu Vasudha, Rathod Pragnya, Anaspure Hemant, Yadav Naresh K

机构信息

Department of Pediatric Ophthalmology and Strabismus, Narayana Nethralaya, Super Specialty Eye Hospital and Post Graduate Institute of Ophthalmology, Bengaluru, Karnataka, India.

Department of Pediatric Ophthalmology and Strabismus, Narayana Nethralaya, Bengaluru, Karnataka, India.

出版信息

Indian J Ophthalmol. 2016 Jun;64(6):469-71. doi: 10.4103/0301-4738.187681.

Abstract

Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) is a rare autosomal dominant genetic disease. It is clinically characterized by four major features; blepharophimosis, ptosis, epicanthus inversus, and telecanthus. We report a case of a 1-year-old female with BPES with unilateral anterior persistent fetal vasculature (PFV). On examination, she was found to have all the clinical features of BPES, along with calcified and partially absorbed cataract with elongated ciliary processes in her left eye. B-scan of left eye showed attached retina with no evidence of posterior PFV. Systemic examination was normal. She underwent cataract surgery with primary posterior capsulotomy with intraocular lens implantation under general anesthesia. Literature search did not reveal any previous reports of unilateral anterior PFV and BPES. The clinical features, other associations, and the difficulties in the surgical management of this condition are discussed.

摘要

睑裂狭小-上睑下垂-内眦赘皮综合征(BPES)是一种罕见的常染色体显性遗传病。其临床特征主要有四个;睑裂狭小、上睑下垂、内眦赘皮和眼距增宽。我们报告一例1岁患有BPES的女性病例,其左眼伴有单侧前部永存原始玻璃体(PFV)。检查发现,她具有BPES的所有临床特征,同时左眼存在钙化且部分吸收的白内障以及睫状突延长。左眼B超显示视网膜附着,无后部PFV迹象。全身检查正常。她在全身麻醉下接受了白内障手术,包括一期后囊切开及人工晶状体植入。文献检索未发现此前有单侧前部PFV与BPES相关的报道。本文讨论了该病症的临床特征、其他相关情况以及手术治疗中的难点。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3943/4991184/fc5fbf2e1104/IJO-64-469-g001.jpg

文献AI研究员

20分钟写一篇综述,助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型,支持多种主流文档格式。

立即体验