4岁男孩的天使:临床,放射学和遗传学报告
Menzile Seda Cosar1, Kardelen Demirel1, Ugur Baran Goz2
1Department of Pediatric Dentistry, Hacettepe University Faculty of Dentistry, Ankara, Turkey.
Case reports in dentistry
|October 9, 2025
概括
基因瘤是一种罕见的遗传性部疾病,会导致无痛的脸部胀. 这份病例报告详细介绍了被诊断患有这种疾病的4岁男孩的临床,放射和遗传特征.
科学领域:
- 遗传学 遗传学 是一个
- 儿科 儿科 儿科
- 口腔和牙面部外科手术
背景情况:
- 基路比症是一种罕见的,自体主导性遗传障碍.
- 它的特点是双边,对称的扩大,导致特征的面部变化.
- 这种情况通常在儿童早期出现,并倾向于随着时间的推移稳定或回归.
研究的目的:
- 为了呈现一个全面的案例报告的儿科病人的基路伯.
- 突出与基路伯教相关的临床,放射学和遗传发现.
- 根据患者的具体情况,讨论管理方法.
主要方法:
- 详细的临床检查和摄影文件.
- 放射性成像,包括全景放射和计算机断层扫描 (CT).
- 基因分析以确定相关基因 (例如,SH3BP2) 中的突变.
主要成果:
- 4岁的男性患者出现了无痛的双边面部胀.
- 放射学发现证实了与基路伯主义一致的特征性骨病变.
- 基因检测显示了SH3BP2基因的突变,证实了诊断.
结论:
- 基路伯症需要多学科的诊断和管理方法.
- 临床,放射和遗传特征的早期识别至关重要.
- 管理策略应根据个体患者的需要和疾病严重程度量身定制.
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