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锁骨颅骨发育不全:1例罕见病例的临床影像学表现

Cleidocranial dysplasia: clinico-radiological illustration of a rare case.

作者信息

Mohan Ravi Prakash S, Suma Gundareddy N, Vashishth Shirin, Goel Sumit

机构信息

Department of Oral Medicine and Radiology, Kothiwal Dental College and Research Centre, Moradabad, India.

出版信息

J Oral Sci. 2010 Mar;52(1):161-6. doi: 10.2334/josnusd.52.161.

Abstract

Cleidocranial dysplasia is an autosomal dominant condition caused by mutation of RUNX2, characterized by generalized dysplasia of the bones and teeth. Affected individuals have short stature, atypical facial features, and skeletal anomalies affecting mainly the skull and clavicle. The dental manifestations are mainly delayed exfoliation of the primary teeth and delayed eruption of the permanent teeth, with multiple impacted supernumeraries, and absence of cellular cementum. The frequency of this disorder is 1 per million individuals. Here we report a rare case of CCD in a 9-year-old male patient having most of the characteristic features of this syndrome. Interestingly, disorganized dentinal tubules were found in the roots of an extracted deciduous first molar, which seems to be a unique feature not reported previously.

摘要

锁骨颅骨发育不全是一种由RUNX2基因突变引起的常染色体显性疾病,其特征为骨骼和牙齿的广泛性发育异常。受影响个体身材矮小,面部特征不典型,骨骼异常主要影响颅骨和锁骨。牙齿表现主要为乳牙迟脱和恒牙迟萌,伴有多个埋伏多生牙,且无细胞性牙骨质。这种疾病的发病率为百万分之一。在此,我们报告一例9岁男性患者的罕见锁骨颅骨发育不全病例,该患者具有该综合征的大多数特征性表现。有趣的是,在拔除的第一乳磨牙牙根中发现牙本质小管排列紊乱,这似乎是此前未报道过的独特特征。

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