Background: Achondroplasia can result in many skeletal manifestations, and degenerative osteoarthritis can develop in patients with achondroplasia. Morphologic changes to both the humerus and glenoid-short humeri with patulous metaphyses and a medialized glenoid-can cause challenges that must be overcome to achieve a successful surgical result in a patient with shoulder dysfunction. Because patients with achondroplasia have near-normal life expectancies, the operative shoulder must be functional as well as quite durable in the long term. In an achondroplastic dwarf with shoulder osteoarthritis and rotator cuff insufficiency, achieving functionality and durability requires the use of a reverse total shoulder arthroplasty (TSA). This procedure has its own set of issues, namely, baseplate fixation and correction of glenoid medialization, if present. Case Report: We present the case of an adult with achondroplastic dwarfism with shoulder osteoarthritis and rotator cuff insufficiency and report the 2-year clinical results for this patient after reverse TSA. Conclusion: Reverse TSA is a viable treatment option for adult achondroplastic patients with shoulder dysfunction. Careful preoperative planning is required to ensure a good clinical result in patients with potentially dysplastic anatomy.

Keywords: Achondroplasia; arthroplasty; arthroplasty–replacement–shoulder; shoulder.

©2024 by the author(s); Creative Commons Attribution License (CC BY).

背景： 阿赫恩德罗普拉西症（软骨发育不全）可能导致许多骨骼表现，并且患有该病的患者可能会发展出退行性关节炎。肱骨和肩胛盂的形态变化——短肱骨伴有宽大的干骺端以及内移的肩胛盂，会在具有肩部功能障碍的患者中引发需要克服的问题以实现手术成功。由于软骨发育不全侏儒患者的预期寿命接近正常水平，因此在长期内，术后的肩关节不仅需要具备功能性还需要非常耐用。对于患有肩关节炎和冈上肌腱功能不足的软骨发育不良侏儒患者，要达到功能性和耐久性则需要使用反向全肩关节置换术（TSA）。该手术自身也有一套问题，特别是基板固定以及如果存在的话内移肩胛盂的矫正。病例报告： 我们报道了一位成年软骨发育不良侏儒患者因肩关节炎和冈上肌腱功能不足接受了反向全肩关节置换术后两年内的临床结果。结论： 对于具有肩部功能障碍的成人软骨发育不全患者，反向TSA是一种可行的治疗选择。需要仔细进行术前计划以确保那些可能有畸形解剖结构患者的良好临床效果。

关键词： 阿赫恩德罗普拉西症；关节置换术；肩关节置换术—替换—肩部；肩部。