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一名患有家族性膨胀性骨溶解症的儿科患者出现多处牙根外吸收。

Multiple External Root Resorption in a Pediatric Patient with Familial Expansile Osteolysis.

作者信息

Macaraeg Kristianne, Lee Su-Min, Kalra Lovika, Velasco Maria, Hajishengallis Evlambia

机构信息

Dr. Macaraeg is an associate pediatric dentist, Center for Pediatric Dental Health, Mount Laurel, N.J., USA.

Dr. Lee is an assistant professor, Department of Endodontics, University of Pennsylvania School of Dental Medicine, Philadelphia, Pa., USA.

出版信息

Pediatr Dent. 2020 Jan 15;42(1):62-65.

Abstract

External root resorption (ERR) of permanent teeth is a pathological process that can lead to their loss. There are several systemic and/or genetic abnormalities that have been associated with ERR. Among them, familial expansile osteolysis (FEO) is an autosomal dominant disease characterized by skeletal defects, middle ear deafness, and abnormal root resorption. The purpose of this paper was to describe the case of a 10-year-old female with familial expansile osteolysis born with missing ossicles and, therefore, deafness. The patient was not diagnosed with FEO until the age of 10 years, when she presented to the dental clinic with advanced ERR in several permanent teeth. The series of tests she underwent for diagnosis and the treatments rendered are presented and discussed. It is recommended that when ERR cannot be explained by local etiologic factors, systemic abnormalities and genetic testing should be considered.

摘要

恒牙的外部牙根吸收(ERR)是一种可导致牙齿缺失的病理过程。有几种全身性和/或基因异常与ERR相关。其中,家族性膨胀性骨溶解(FEO)是一种常染色体显性疾病,其特征为骨骼缺陷、中耳性耳聋和牙根吸收异常。本文的目的是描述一名10岁女性家族性膨胀性骨溶解病例,该患者出生时听小骨缺失,因此患有耳聋。该患者直到10岁时才被诊断为FEO,当时她因几颗恒牙出现晚期ERR而前往牙科诊所就诊。本文介绍并讨论了她为诊断所接受的一系列检查以及所进行的治疗。建议当ERR无法用局部病因解释时,应考虑全身性异常和基因检测。

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