Reid Daniel B, Pugliano Vito L, Smith Eric L
Orthopedics. 2014 Oct;37(10):e946-51. doi: 10.3928/01477447-20140924-93.
Thrombocytopenia-absent radius (TAR) syndrome is a rare genetic condition with a complex inheritance pattern. This syndrome is classically characterized by hypomegakaryocytic thrombocytopenia as well as bilateral absent radii, shortened ulna, and radially deviated 5-digit hands. During infancy, the predominant manifestations are hemorrhagic complications. Later in life, the bleeding disorder typically improves, but the musculoskeletal abnormalities become of greater concern because of the effects on quality of life. Although the classic musculoskeletal manifestations of TAR syndrome involve the upper extremity, multiple lower-extremity abnormalities have been described, especially dysplasia of the knee. Knee abnormalities include genu varum, varying degrees of laxity or stiffness, patellar abnormalities, concave distal femur, convex medial tibial plateau, and/or absence of the anterior cruciate ligament and posterior cruciate ligament. Several management strategies for lower-extremity abnormalities in TAR syndrome have been described, especially for pediatric patients. Management strategies have not halted the natural progression of knee disease in these patients, and the effect that these knee abnormalities have in adulthood is unclear. Management of knee abnormalities in adults with TAR syndrome is poorly described in the current literature. The authors report a 59-year-old patient with TAR syndrome and knee abnormalities who underwent successful total knee arthroplasty. The patient was followed to the 3-year postoperative visit. At various postoperative time points (7 weeks, 6 months, 1 year, and 3 years), Knee Society Scores and 12-Item Short Form Health Survey scores were recorded. Radiographs obtained at each clinical visit showed well-positioned, well-fixed components. The authors concluded that total knee arthroplasty may be a safe and effective surgical intervention for adults with TAR syndrome and associated knee osteoarthritis.
血小板减少伴桡骨缺如（TAR）综合征是一种罕见的遗传性疾病，遗传模式复杂。该综合征的典型特征是巨核细胞减少性血小板减少以及双侧桡骨缺如、尺骨缩短和五指手向桡侧偏斜。在婴儿期，主要表现为出血并发症。在生命后期，出血性疾病通常会改善，但肌肉骨骼异常因对生活质量的影响而变得更受关注。尽管TAR综合征的典型肌肉骨骼表现累及上肢，但也有多种下肢异常的描述，尤其是膝关节发育异常。膝关节异常包括膝内翻、不同程度的松弛或僵硬、髌骨异常、股骨远端凹陷、胫骨内侧平台凸起和/或前交叉韧带和后交叉韧带缺如。已经描述了几种针对TAR综合征下肢异常的治疗策略，尤其是针对儿科患者。这些治疗策略并未阻止这些患者膝关节疾病的自然进展，而且这些膝关节异常在成年期的影响尚不清楚。目前文献中对成年TAR综合征患者膝关节异常的治疗描述较少。作者报告了一名59岁患有TAR综合征和膝关节异常的患者，该患者成功接受了全膝关节置换术。对该患者进行了术后3年的随访。在术后不同时间点（7周、6个月、1年和3年）记录了膝关节协会评分和12项简短健康调查问卷评分。每次临床就诊时拍摄的X线片显示假体位置良好、固定牢固。作者得出结论，全膝关节置换术对于患有TAR综合征和相关膝关节骨关节炎的成年人可能是一种安全有效的手术干预措施。
