Patil Santosh, Yadav Nidhi, Patil Prashant
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 .
J Clin Diagn Res. 2014 Jul;8(7):ZD28-30. doi: 10.7860/JCDR/2014/8842.4608. Epub 2014 Jul 20.
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.
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。