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  • Title: Trevor's disease of the distal radioulnar joint in two children with achondroplasia.
    Author: Kopriva JM, Miller KJ, Legare JM, Noonan KJ.
    Journal: Am J Med Genet A; 2020 May; 182(5):1249-1254. PubMed ID: 32112622.
    Abstract:
    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.
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