半肢骨骺发育异常的影像学表现

Imaging of Dysplasia Epiphysealis Hemimelica

目的回顾性分析半肢骨骺发育异常（DEH）的影像学表现,以提高对该病的诊断水平。方法 10例DEH患儿,男7例,女3例,年龄2~13岁,临床表现为关节周围硬性肿块,对其影像资料进行回顾性分析。结果分型：局限型6例,经典型3例,全身型1例。发病部位：发生于膝关节3例,踝关节2例,足部关节2例,腕关节1例,膝关节及踝关节1例,髋关节、膝关节及踝关节1例。合并畸形：4例合并膝外翻,1例合并踝内翻,1例合并双下肢不等长,1例合并脚趾弯曲。影像表现：9例X线和/或CT表现为骨骺旁钙化、骨化影,2例与固有骨骺无融合,5例有融合,2例与骨骺及干骺端均有融合,4例骨骺偏侧增大,1例全侧增大,2例骨骺及干骺端均有增大;1例表现为跟骨和骰骨变形,骰骨和第四、五跖骨近端旁多发不规则骨化影,第五近、远节趾骨骨骺增生,脚趾弯曲。3例MRI表现为骨骺旁骨软骨信号,2例与固有骨骺间无软骨间隙,1例有软骨间隙。结论 DEH的影像表现较具特征性,表现为骨骺旁骨软骨结构,可与固有骨骺发生/不发生融合,偶可累及干骺端,干骺端增宽。

Objective To improve the diagnosis of dysplasia epiphysealis hemimelica（ DEH） by reviewing the imaging performances. Methods Clinical and imaging materials of 10 patients with DEH were evaluated,7 of whom were boys and 3 were girls; age ranged from 2 years to 13 years. The main complaint was a swelling bony mass around the joint. Results Classified： 6 cases of localized,3 cases of classical,and 1 case of generalized. Location： 3 cases involved the knees,2 cases involved the ankles,2 cases involved the feet,1 case involved the wrist,1 case involved the knee and ankle,and 1 case involved the whole lower limb. Complications： 4 cases with genu valgum,1 case with the ankle varus,1 case with leglength discrepancy,and 1 case with the crooked toe. Imaging features： Osteochondral masses were seen around the epiphysis or tarsal bone in all cases. The osseous components of the osteochondral masses were continuous or separated from the epiphysis. 2 of 10 cases showed metaphyseal widening. Conclusion The imaging performances of DEH are osteochondral masses around the epiphysis or tarsus,and the osseous components were continuous or separated from the epiphysis,which are often characteristic. Sometimes the metaphysis could be involved,thereby showing metaphyseal widening.