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耳齿综合征:病例报告及与特雷彻·柯林斯综合征的鉴别诊断。

Otodental syndrome: Case report and differential diagnosis with Treacher Collins syndrome.

机构信息

Department of Pediatric Dentistry, Istituto Stomatologico Italiano, Milan, Italy.

出版信息

Eur J Paediatr Dent. 2022 Mar;23(1):66-58. doi: 10.23804/ejpd.2022.23.01.12.

Abstract

BACKGROUND

Otodental syndrome and Treacher Collins syndrome are rare diseases that have similar clinical features, which can complicate the diagnostic process. These syndromes cause skeletal and dental abnormalities, the differential diagnosis can be based on clinical signs but only the genetic analysis can confirm it. The aim of this case report is to describe and compare clinical signs of these syndromes.

CASE REPORT

A 7-year-old patient came to our department: he presented abnormal tooth shapes and sizes, delayed teeth replacement and micrognathia. After extra- and intra-oral examination and radiographic exams, a clinical diagnosis of otodental syndrome was made, and a genetic testing was requested to confirm the diagnosis.

CONCLUSION

Dental management of patients with otodental syndrome is challenging due to agenesis, teeth malformation, lack of space for permanent dentition. Proper treatment decision is crucial to obtain the best result for the patient.

摘要

背景

耳-齿综合征和特雷彻·柯林斯综合征是两种罕见疾病,它们具有相似的临床特征,这可能会使诊断过程复杂化。这些综合征会导致骨骼和牙齿异常,鉴别诊断可以基于临床症状,但只有基因分析才能确诊。本病例报告旨在描述和比较这两种综合征的临床特征。

病例报告

一位 7 岁的患者来我科就诊:他的牙齿形状和大小异常,牙齿替换延迟,下颌骨发育不良。经过口腔内外检查和影像学检查,临床诊断为耳-齿综合征,并要求进行基因检测以确认诊断。

结论

由于患者存在牙缺失、牙齿畸形、恒牙萌出间隙不足,耳-齿综合征患者的牙齿管理具有挑战性。做出正确的治疗决策对患者获得最佳效果至关重要。

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