Suppr超能文献

一名儿童非综合征性少牙畸形的临床与遗传学分析

Clinical and genetic analysis of a nonsyndromic oligodontia in a child.

作者信息

Coelho Neto Orlando Lopes, Reis Maria Fernanda, de Sabóia Ticiana Medeiros, Tannure Patrícia Nivoloni, Antunes Leonardo Santos, Antonio Andréa Gonçalves

机构信息

School of Dentistry, Universidade Veiga de Almeida, 20271-020 Rio de Janeiro, RJ, Brazil.

Clinical Research Unit, Universidade Federal Fluminense, 20271-020 Niterói, RJ, Brazil.

出版信息

Case Rep Dent. 2014;2014:137621. doi: 10.1155/2014/137621. Epub 2014 Aug 25.

Abstract

The etiology of tooth agenesis may be related to several factors, among them, the genetic alterations that play a fundamental role in the development of this dental anomaly, so that knowledge about it helps the clinician to have a greater understanding of their patients. Thus, the aim of this study was to report the case of a nonsyndromic child, with tooth agenesis of one premolar, three first permanent molars, and all second permanent molars. In addition, a genetic research between polymorphic variants in genes MMP3 and BMP2 was performed in order to observe the association between changes in these genes and congenital tooth absences. For this purpose, DNA from child was extracted and polymorphisms were investigated. It was clinically and radiographically observed that this was a case of oligodontia, in which the authors suggested an association between the polymorphisms found and tooth agenesis diagnosed in that child.

摘要

牙齿发育不全的病因可能与多种因素有关,其中,基因改变在这种牙齿异常的发生发展中起着重要作用,因此,对其的了解有助于临床医生更好地理解患者情况。因此,本研究的目的是报告一例非综合征型儿童病例,该儿童有一颗前磨牙、三颗第一恒磨牙和所有第二恒磨牙缺失。此外,对MMP3和BMP2基因的多态性变异进行了基因研究,以观察这些基因变化与先天性牙齿缺失之间的关联。为此,提取了该儿童的DNA并对多态性进行了研究。临床和影像学观察表明,这是一例少牙症病例,作者认为所发现的多态性与该儿童诊断出的牙齿发育不全之间存在关联。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e559/4158267/908fb5b22448/CRID2014-137621.001.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