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Trevor's disease of the distal radioulnar joint in two children with achondroplasia.
Kopriva, John M; Miller, Kyle J; Legare, Janet M; Noonan, Kenneth J.
Afiliação
  • Kopriva JM; University of Wisconsin School of Medicine and Public Health, Madison, Wisconsin.
  • Miller KJ; Department of Orthopedics and Rehabilitation, University of Wisconsin School of Medicine and Public Health, Madison, Wisconsin.
  • Legare JM; Department of Pediatrics, University of Wisconsin School of Medicine and Public Health, Madison, Wisconsin.
  • Noonan KJ; Department of Orthopedics and Rehabilitation, University of Wisconsin School of Medicine and Public Health, Madison, Wisconsin.
Am J Med Genet A ; 182(5): 1249-1254, 2020 05.
Article em En | MEDLINE | ID: mdl-32112622
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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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Acondroplasia / Tíbia / Doenças do Desenvolvimento Ósseo / Osteocondroma / Fêmur Tipo de estudo: Prognostic_studies Limite: Child / Female / Humans / Male Idioma: En Revista: Am J Med Genet A Assunto da revista: GENETICA MEDICA Ano de publicação: 2020 Tipo de documento: Article

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Acondroplasia / Tíbia / Doenças do Desenvolvimento Ósseo / Osteocondroma / Fêmur Tipo de estudo: Prognostic_studies Limite: Child / Female / Humans / Male Idioma: En Revista: Am J Med Genet A Assunto da revista: GENETICA MEDICA Ano de publicação: 2020 Tipo de documento: Article