Acta Orthop Belg. 2022 Jun;88(2):255-262. doi: 10.52628/88.2.9117.
Osteogenesis imperfecta is a rare congenital disease of connective tissue characterized by recurrent fractures and progressive skeletal deformities which may impact on gait. The aims of this prospective study were to identify gait deviations in children with osteogenesis imperfecta compared to age-matched controls and establish relationships with clinical features. We evaluated 22 patients with different types of osteogenesis imperfecta using three-dimensional gait analysis. The incidence and location of frac- tures, fracture at birth, age at first fracture, use of intramedullary rodding and number of surgical in- terventions in the lower extremities, bone mineral density, hypermobility and number of injections of bisphosphonates were recorded for each patient. Step length was lower in the osteogenesis imperfecta group compared with the control group. Kinematics showed that sagittal pelvic and transversal hip range of motion were higher in the osteogenesis imperfecta group, whereas sagittal knee range of motion during swing phase was reduced. Regarding kinetics, hip flexion moment and hip negative power peak were significantly decreased in the osteogenesis imperfecta group. Mechanical and energetic parameters were considered as normal. The principal component analysis revealed that the bone mineral density was increased in children who had received more in- jections of bisphosphonates and these had also less deficit in kinematic parameters. Main modifications in gait parameters were observed in spatiotemporal, kinematic and kinetic data. More studies are necessary to allow stratification of severity of the osteogenesis imperfecta disease, help improve its challenging multidisciplinary treatment and ob- jectively assess treatment outcomes.
成骨不全症是一种罕见的结缔组织先天性疾病,其特征为反复骨折和进行性骨骼畸形,这可能会影响步态。本前瞻性研究的目的是确定成骨不全症患儿与年龄匹配对照组之间的步态偏差,并确定与临床特征的关系。我们使用三维步态分析评估了 22 名患有不同类型成骨不全症的患者。记录每位患者的骨折发生率和位置、出生时骨折、首次骨折年龄、使用髓内棒和下肢手术干预次数、骨矿物质密度、活动度和双膦酸盐注射次数。与对照组相比,成骨不全症组的步长较低。运动学显示,成骨不全症组的矢状骨盆和横向髋关节活动范围较高,而摆动阶段的矢状膝关节活动范围减小。在动力学方面,成骨不全症组的髋关节屈曲力矩和髋关节负功率峰值明显降低。力学和能量参数被认为是正常的。主成分分析显示,接受更多双膦酸盐注射的儿童骨矿物质密度增加,且运动学参数的缺陷也较少。在时空、运动学和动力学数据中观察到主要的步态参数变化。需要更多的研究来允许对成骨不全症疾病的严重程度进行分层,帮助改善其具有挑战性的多学科治疗,并客观评估治疗效果。