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

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3 d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。

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 familial 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 typeⅩalpha 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,widened 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 anteversion 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 retinaculum patella and the vastus lateralis release combined with medial patellofemoral ligament(MPFL)reconstruction.Postoperative X⁃ray showed good internal fixation position and the Caton index of patella 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 combined with HPD.