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多种牙齿和骨骼异常的非综合征性发生:一例罕见病例报告及文献简要综述

Non-syndromic occurrence of multiple dental and skeletal anomalies: a rare case report and brief literature review.

作者信息

Patil Santosh, Yadav Nidhi, Patil Prashant

机构信息

Reader, Department of Oral Medicine and Radiology, Jodhpur Dental College General Hospital , Jodhpur, Rajasthan, India .

Senior Lecturer, Department of Oral Medicine and Radiology, Jodhpur Dental College General Hospital , Jodhpur, Rajasthan, India .

出版信息

J Clin Diagn Res. 2014 Jul;8(7):ZD28-30. doi: 10.7860/JCDR/2014/8842.4608. Epub 2014 Jul 20.

Abstract

Oral physician has always been challenged when it comes to diagnosing rare nonsyndromic cases because of the varied presentation of multiple dental abnormalities caused due to mutations in developmental regulatory genes. This coupled with skeletal abnormalities makes the task more difficult. But as we come across such rare constellation of findings, it makes the field more intriguing. Here, we report an extremely rare case of non syndromic occurrence of dental manifestations like multiple dens invaginatus, generalised microdontia, generalised hypoplasia, hypodontia, pulp stones and widening of pulp chamber along with skeletal findings of bilateral syndactyly of legs and brachydactyly of hands and legs. Although many non syndromic cases have been reported in the literature, the unusual occurrence of findings in the present case is being reported for the first time.

摘要

由于发育调控基因突变导致多种牙齿异常表现各异,口腔内科医生在诊断罕见的非综合征性病例时一直面临挑战。再加上骨骼异常,使这项任务更加困难。但当我们遇到如此罕见的一系列症状时,这一领域就变得更加引人入胜。在此,我们报告一例极其罕见的非综合征性病例,其出现了多种牙内陷、普遍性小牙、普遍性牙发育不全、牙缺失、髓石以及髓腔增宽等牙齿表现,同时伴有双腿双侧并指(趾)以及双手和双腿短指(趾)的骨骼表现。尽管文献中已报道了许多非综合征性病例,但本病例中这些异常表现的罕见组合尚属首次报道。

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本文引用的文献

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Cranioectodermal dysplasia: a probable ciliopathy.颅外胚层发育不良:一种可能的纤毛病。
Am J Med Genet A. 2009 Oct;149A(10):2206-11. doi: 10.1002/ajmg.a.33013.
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The genetic aetiology of Silver-Russell syndrome.Silver-Russell综合征的遗传病因学。
J Med Genet. 2008 Apr;45(4):193-9. doi: 10.1136/jmg.2007.053017. Epub 2007 Dec 21.
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Tricho-dento-osseous syndrome. Features of the hair and teeth.毛发-牙齿-骨综合征。毛发和牙齿的特征。
Oral Surg Oral Med Oral Pathol. 1994 May;77(5):487-93. doi: 10.1016/0030-4220(94)90228-3.

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