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对与蓝色巩膜相关综合征的综述,包括头颈部畸形。

A review of syndromes associated with blue sclera, with inclusion of malformations of the head and neck.

作者信息

Brooks John K

机构信息

Department of Oncology and Diagnostic Sciences, University of Maryland School of Dentistry, Baltimore, MD, USA.

出版信息

Oral Surg Oral Med Oral Pathol Oral Radiol. 2018 Sep;126(3):252-263. doi: 10.1016/j.oooo.2018.05.012. Epub 2018 May 31.

DOI:10.1016/j.oooo.2018.05.012
PMID:29980417
Abstract

Blue sclera is attributed to a diversity of mechanisms, mostly arising in genetic syndromes and, to a lesser extent, in nongenetic disorders and may occur as a side effect of medication intake. A literature search was conducted to establish a database of blue scleral associations. This article represents the most comprehensive assemblage of etiopathologies coincidental with blue sclera, comprising 66 genetic syndromes, 8 disorders, and 4 pharmacologically induced pigmentations. To increase the knowledge regarding the clinical significance of blue sclera, summaries of the systemic and oral maxillofacial comorbidities are provided. Recognition of the presence of blue sclera is important as it could prompt a timelier and more thorough diagnostic evaluation of possible systemic and dental malformations, potentially improving clinical outcomes.

摘要

巩膜发蓝可归因于多种机制,主要出现在遗传综合征中,在非遗传疾病中出现的程度较低,也可能作为药物摄入的副作用而发生。进行了文献检索以建立巩膜发蓝相关情况的数据库。本文呈现了与巩膜发蓝同时出现的病因病理的最全面汇总,包括66种遗传综合征、8种疾病和4种药物诱导的色素沉着。为增加对巩膜发蓝临床意义的认识,提供了全身和口腔颌面合并症的概述。认识到巩膜发蓝的存在很重要,因为它可能促使对可能的全身和牙齿畸形进行更及时、更全面的诊断评估,从而有可能改善临床结果。

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