临床和放射性频谱在肌发育不良:一个案例系列
Fakir Mohan Debta1, Kunal Agarwal1, Basudha Bera1
1Department of Oral Medicine and Radiology, SCB Dental College and Hospital, Cuttack, Odisha, Indi.
Current health sciences journal
|November 20, 2025
概括
脑发育不良 (CCD) 是一种遗传性疾病,由于RUNX2突变影响骨发育,呈现出各种骨和牙异常. 这些表现的早期诊断对于改善患者的结果和生活质量至关重要.
科学领域:
- 遗传学 是一个遗传学.
- 整形外科 整形外科 整形外科
- 牙科 牙科是指牙科的专业.
背景情况:
- 脑膜形 (CCD) 是一种自体主导性疾病.
- 它是由Runt相关的转录因子2 (RUNX2) 基因的突变引起的.
- 慢性病主要影响由膜内骨化形成的骨,导致骨和牙的普遍发育不良.
研究的目的:
- 介绍四名患有cleidocranial dysplasia的成年患者的临床和放射性发现的范围.
- 为了突出显示在同一疾病内的失生症表现的变化.
主要方法:
- 案例系列设计.
- 对四名被诊断患有CCD的成年患者进行临床检查.
- 放射性评估以记录骨和牙异常.
主要成果:
- 患者呈现出一系列典型的CCD特征,包括身高矮,关节异常,延迟形关闭和虫骨.
- 观察到的牙异常包括延迟永久牙喷发,保留的树叶牙,超数牙,以及缺乏细胞凝固.
- 这些表现的严重程度和组合在四名成年患者中各不相同.
结论:
- 在成年人中,大脑膜发育不良表现出广泛的临床和放射性表现.
- 准确的诊断依赖于识别这些多样化的骨和牙发现.
- 了解CCD表现的变异性对于全面的患者管理和治疗规划至关重要.
更多相关视频
10:23Author Spotlight: Three-Dimensional Cephalometric Landmark Annotation Demonstration on Human Cone Beam Computed Tomography Scans
Published on: September 8, 2023
3.6K
02:42Analysis of Craniomaxillofacial Malformations in Mice Using Three-dimensional Microcomputed Tomography
Published on: January 17, 2025
746
相关概念视频
Case Studies
There are many research methods available to psychologists in their efforts to understand, describe, and explain behavior and the cognitive and biological processes that underlie it.
Aneurysm II: Clinical Manifestations and Diagnostic Studies
Thoracic, aortic arch and abdominal aneurysms are significant vascular conditions that can present with various clinical manifestations and lead to serious complications. Understanding these manifestations and the appropriate diagnostic studies is essential for effective management and treatment.Thoracic Aortic AneurysmsThoracic aortic aneurysms often remain asymptomatic until they reach a size that impinges on adjacent structures. They typically cause deep, diffuse chest pain that radiates to...
Cellular Adaptation IV: Dysplasia and Metaplasia
DysplasiaDysplasia refers to abnormal changes in the size, shape, and organization of mature cells, characterized by pleomorphism, nuclear abnormalities, and increased mitotic activity. It commonly affects epithelial tissues, including the cervix, gastrointestinal tract, respiratory mucosa, and endometrium. Although it may occur alongside hyperplasia, dysplasia is not a true adaptive response but a preneoplastic change with potential to progress to cancer.When confined above the basement...
