Suppr超能文献

软骨发育不全与牙周疾病。

Achondroplasia and periodontal disease.

作者信息

Chawla Kirti, Lamba Arundeep Kaur, Faraz Farrukh, Tandon Shruti

机构信息

Department of Periodontics and Oral Implantology, Maulana Azad Institute of Dental Sciences, New Delhi, India.

出版信息

J Indian Soc Periodontol. 2012 Jan;16(1):138-40. doi: 10.4103/0972-124X.94624.

Abstract

Achondroplasia is a non-lethal form of chondrodysplasia. It is a disturbance of endochondral bone formation which results in characteristic dwarfism. It is transmitted as an autosomal dominant trait, with complete penetrance. De novo mutations cause up to 90% of cases. The mutation rate is estimated to be 0.000014 per gamete per generation. It is a rare disorder with a prevalence of 1:10,000 to 1:50,000 births worldwide. A young female patient suffering from achondroplasia reported with oral manifestations showing features of periodontitis, hypoplasia of the mid-face, deep periodontal pockets, and mobility of teeth. This case report highlights this rare anomaly and its oral manifestations.

摘要

软骨发育不全是软骨发育异常的一种非致死形式。它是软骨内骨形成的一种紊乱,导致特征性侏儒症。其遗传方式为常染色体显性遗传,具有完全外显率。新发突变导致高达90%的病例。估计每代每个配子的突变率为0.000014。这是一种罕见疾病,全球发病率为1:10,000至1:50,000活产。一名患有软骨发育不全的年轻女性患者报告有口腔表现,显示出牙周炎、面中部发育不全、深牙周袋和牙齿松动等特征。本病例报告突出了这种罕见异常及其口腔表现。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b86e/3357025/fe832b03503d/JISP-16-138-g001.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