Suppr超能文献

瓦登伯革氏综合征:一例罕见病例。

Waardenburg syndrome: A rare case.

作者信息

Rawlani Shivlal M, Ramtake Roshani, Dhabarde Ajab, Rawlani Sudhir S

机构信息

Department of Dentistry, Mahatma Gandhi Institute of Medical Sciences, Wardha, Maharashtra, India.

Department of Ophthalmology, Mahatma Gandhi Institute of Medical Sciences, Wardha, Maharashtra, India.

出版信息

Oman J Ophthalmol. 2018 May-Aug;11(2):158-160. doi: 10.4103/ojo.OJO_51_2014.

Abstract

Waardenburg Syndrome is a rare disorder of neural crest cell development. It is genetically inherited. Varying in prevalence from 1:42000 to 1:50,000, it compromises approximately 2-5% of congenital deaf children. The syndrome is not expressed in its complete form, in about 20% cases, which adds for its heterogenisity . Even among people affected in the same family,the features do vary. Unilateral heterochromia that manifests as lighter pigmentation of one iris is associated with Waardenburg syndrome and Parry-Romberg syndrome and less commonly with Hirschsprung disease. A case of ten yrs. old boy with a typical facial profile and hearing loss is reported.

摘要

瓦登伯革氏综合征是一种罕见的神经嵴细胞发育障碍疾病。它是遗传性的。其患病率在1:42000至1:50000之间,约占先天性耳聋儿童的2 - 5%。在约20%的病例中,该综合征并非以完整形式表现出来,这增加了其异质性。即使在同一家族中受影响的人之间,症状也会有所不同。表现为一侧虹膜色素沉着较浅的单侧异色症与瓦登伯革氏综合征和帕里 - 龙贝格综合征有关,较少与先天性巨结肠病有关。本文报告了一例10岁男孩,具有典型的面部特征和听力损失。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2b13/5991067/f993c877ceb3/OJO-11-158-g003.jpg

文献检索

告别复杂PubMed语法,用中文像聊天一样搜索,搜遍4000万医学文献。AI智能推荐,让科研检索更轻松。

立即免费搜索

文件翻译

保留排版,准确专业,支持PDF/Word/PPT等文件格式,支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述,25分钟生成高质量综述,智能提取关键信息,辅助科研写作。

立即免费体验