家族性矮小症合并习惯性髌骨脱位并文献复习
Familial dwarfism with habitual patellar dislocation and literature review
王佳琪 1赵丹阳 1龙飞 1杨旭 1陈廖斌1
作者信息
- 1. 武汉大学中南医院关节与运动医学科 湖北 武汉 430071
- 折叠
摘要
目的:分析家族性矮小症合并习惯性髌骨脱位(HPD)的临床特征及临床诊疗方法.方法:选取武汉大学中南医院2023年1月收治的1例家族性矮小症合并HPD的男性患者临床资料进行分析,并结合目前国内外最新文献及对患者及其亲属发病情况的随访,总结家族性矮小症合并HPD的病因、诊断方法、手术技术及术后膝关节功能恢复情况.结果:该病例入院体格检查提示矮小症,基因检测结果提示X型胶原蛋白α1链(COL10A1)存在基因突变.术前X线提示双股骨上段畸形,股骨颈短缩,股骨头变形,左侧髌骨移位;膝关节CT提示左侧股骨滑车发育不良,髌股间隙增宽,髌股关节对位欠佳,左膝胫骨结节-股骨滑车沟距离19.93 mm,左髌骨倾斜角22.1 °,左侧股骨颈前倾角10.2°;膝关节MRI提示左膝髌股关节对位不佳,股骨滑车沟浅,髌骨向外侧移位,滑车沟角159.7°,滑车沟深度0.2 mm,外侧滑车倾斜度4.7 °.行髌骨外侧支持带及股外侧肌松解联合内侧髌股韧带(MPFL)重建术,术后3d复查左膝正侧位X线片显示内固定位置良好,髌骨高度Caton指数0.96,随访6个月,左髌骨未出现再脱位,膝关节功能恢复良好,Lysholm评分95分(术前74分),Kujala评分93分(术前73分).结论:本例家族性矮小症合并HPD较为罕见,其发病原因主要与基因突变所致长骨干骺端发育不良有关.本报告将为更多家族性矮小症合并HPD患者的诊断和治疗提供借鉴.
Abstract
Objective:To analyze the clinical characteristics,diagnosis,and treatment methods of familial dwarfism with habitual patellar dislocation(HPD).Methods:The clinical data of a male case of famil-ial dwarfism with HPD admitted to our department in January 2023 were analyzed.Combined with the latest literature and follow-up of the patient and his relatives,the etiology,diagnostic methods,surgical techniques,and postoperative knee joint function recovery of familial dwarfism with HPD were summarized.Results:The physical examination of this case suggested dwarfism.Genetic test results suggest a collagen type X alpha 1 chain(COL10A1)mutation.Preoperative X-rays showed deformities in the upper shaft of both femurs,shortening of the femoral neck,deformity of the femoral head,and left patellar dislocation;knee joint CT scan showed left femoral trochlear dysplasia,wid-ened patellofemoral joint space,and poor alignment of the patellofemoral joint;the tibial tuberosity to femoral trochlear groove distance was 19.93 mm,patella tilt angle was 22.1 °,and femoral antever-sion was 10.2 °;MRI showed poor alignment of the left patellofemoral joint,shallow femoral trochlear groove,and lateral displacement of the patella;trochlear groove angle was 159.7 °,trochlear groove depth was 0.2 mm,and lateral trochlear tilt was 4.7 °.The patient underwent lateral retinacu-lum patella and the vastus lateralis release combined with medial patellofemoral ligament(MPFL)re-construction.Postoperative X-ray showed good internal fixation position and the Caton index of patel-la height was 0.96.At the 6-month follow-up,there was no recurrence of patella dislocation,and the knee function recovered well,with a Lysholm score of 95(preoperative 74)and a Kujala score of 93(preoperative 73).Conclusion:Familial dwarfism combined with HPD is rare,and its etiology is mainly related to the developmental disorders of the long bone epiphysis caused by genetic mutations.This report will provide a reference for diagnosing and treating patients with familial dwarfism com-bined with HPD.
关键词
家族性矮小症/习惯性髌骨脱位/内侧髌股韧带Key words
Familial Dwarfism/Habitual Patellar Dislocation/Medial Patellofemoral Ligament引用本文复制引用
基金项目
国家自然科学基金青年科学基金项目(82002265)
武汉大学中南医院医学科技创新平台支撑项目(PTXM2021033)
出版年
2024
NETL
NSTL
万方数据