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特雷彻·柯林斯综合征:一例病例报告及眼科特征综述。

Treacher Collins syndrome: A case report and review of ophthalmic features.

作者信息

Sharma Reena, Sharma Brahmadeo, Babber Meenu, Singh Sonali, Jain Gunjan

机构信息

UP Rural Institute of Medical Sciences and Research, Saifai, Etawah, Uttar Pradesh, India.

出版信息

Taiwan J Ophthalmol. 2016 Oct-Dec;6(4):206-209. doi: 10.1016/j.tjo.2016.07.002. Epub 2016 Aug 12.

Abstract

Treacher Collins syndrome is a congenital disorder with bilaterally symmetric anomalies of the structures developing from the first and second branchial arches. The ocular and orbital features are an obligatory component for the diagnosis. We presented a case of typical, complete syndrome and also reviewed the varied ophthalmological manifestations of the disease in the literature. Antimongoloid slanting of palpebral fissures and lower lid colobomas are constant features of the syndrome. However, varied ocular and lacrimal drainage anomalies are also associated. TCS is a syndrome with multiple ocular and orbital features, a knowledge of which will help in the diagnosis of incomplete forms of the syndrome.

摘要

特雷彻·柯林斯综合征是一种先天性疾病,其特征为第一和第二鳃弓发育形成的结构出现双侧对称性异常。眼部和眼眶特征是诊断该病的必备要素。我们报告了一例典型的完全型综合征病例,并回顾了文献中该疾病多样的眼科表现。睑裂反蒙古样倾斜和下睑缺损是该综合征的恒定特征。然而,各种眼部和泪道引流异常也与之相关。特雷彻·柯林斯综合征是一种具有多种眼部和眼眶特征的综合征,了解这些特征将有助于诊断该综合征的不完全形式。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c24a/5525627/854c2ec4e06b/TJO-6-206-g001.jpg

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