成骨不全症:利用数字化工作流程分析遗传基础和治疗方法:临床报告。

IF 4.3 2区 医学 Q1 DENTISTRY, ORAL SURGERY & MEDICINE Journal of Prosthetic Dentistry Pub Date : 2024-11-21 DOI:10.1016/j.prosdent.2024.09.032
Patrick Klein, Johanna S Hoppe, Nuria C Bramswig, Petra C Gierthmuehlen
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引用次数: 0

摘要

本报告介绍了一名 20 岁的 I 型发育不全髓质发育不全(AI)女性患者的治疗情况,她患有美学问题和过敏症。治疗以功能和美学两方面为目标,重点是使用全数字化工作流程进行全口修复。在跨学科方法中,进行了多基因面板分析。数字化口内扫描和面部扫描有助于进行精确的虚拟规划,指导微创预备。在用半透明氧化锆进行最终修复之前,先用高性能聚碳酸酯铣制了长期临时修复体。这种方法既省时又省钱,通过强调遗传学的关键作用帮助患者了解自己的疾病,并展示了牙科合作干预的成功。严格的召回计划对于这位患有人工关节置换术和 AMELX 基因致病性框架移位变体的患者的长期成功至关重要。
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Amelogenesis imperfecta: Analysis of the genetic basis and treatment with a digital workflow: A clinical report.

A 20-year-old woman with type I hypoplastic amelogenesis imperfecta (AI) experiencing esthetic concerns and hypersensitivity is presented. The treatment was aimed at both functional and esthetic aspects, focusing on complete mouth rehabilitation using a fully digital workflow. In an interdisciplinary approach, a multigene panel analysis was performed. Digital intraoral scans and a face scan facilitated precise virtual planning, guiding minimally invasive preparations. Long-term interim restorations milled from high-performance polycarbonate preceded definitive restorations in translucent zirconia. This approach resulted in a time- and cost-efficient treatment, helped the patient to understand her disease by highlighting the pivotal role of genetics, and demonstrated the success of collaborative dental interventions. A strict recall program will be most important for the long-term success of this patient with AI and a pathogenic frameshift variant in the AMELX gene.

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来源期刊
Journal of Prosthetic Dentistry
Journal of Prosthetic Dentistry 医学-牙科与口腔外科
CiteScore
7.00
自引率
13.00%
发文量
599
审稿时长
69 days
期刊介绍: The Journal of Prosthetic Dentistry is the leading professional journal devoted exclusively to prosthetic and restorative dentistry. The Journal is the official publication for 24 leading U.S. international prosthodontic organizations. The monthly publication features timely, original peer-reviewed articles on the newest techniques, dental materials, and research findings. The Journal serves prosthodontists and dentists in advanced practice, and features color photos that illustrate many step-by-step procedures. The Journal of Prosthetic Dentistry is included in Index Medicus and CINAHL.
期刊最新文献
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