University of Wisconsin School of Medicine and Public Health, Madison, Wisconsin.
Department of Orthopedics and Rehabilitation, University of Wisconsin School of Medicine and Public Health, Madison, Wisconsin.
Am J Med Genet A. 2020 May;182(5):1249-1254. doi: 10.1002/ajmg.a.61529. Epub 2020 Feb 29.
Two children with achondroplasia who developed an abnormal bony outgrowth at the distal radioulnar joint (DRUJ), indistinguishable from an osteochondroma on histology, but the radiographic appearance, location, and asymmetry suggested the rare diagnosis of dysplasia epiphysealis hemimelica (DEH or "Trevor's disease"). One child experienced symptomatic relief with surgical excision and one was observed clinically due to lack of significant symptoms. These are the first presented cases of DEH in achondroplasia, both affecting the DRUJ. Due to the infrequency of DEH, more research is needed to better understand the potential connection to achondroplasia. For management, we suggest shared surgical decision making based on symptoms.
两个患有软骨发育不全的儿童在桡尺远侧关节（DRUJ）处出现异常骨生长，组织学上与骨软骨瘤无法区分，但影像学表现、位置和不对称性提示罕见的半侧骨骺发育不良（DEH 或“Trevor 病”）诊断。一名患儿接受手术切除后症状缓解，另一名患儿由于症状不明显而进行临床观察。这是软骨发育不全中首例 DEH 病例，均影响 DRUJ。由于 DEH 罕见，需要更多研究以更好地了解与软骨发育不全的潜在联系。对于治疗，我们建议根据症状共同做出手术决策。
