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[骨发育异常的进展]

[Advances in bone dysplasias].

作者信息

Borrego E, Farrington D M, Downey F J

机构信息

Servicio de Traumatología Infantil, Hospitales Universitarios Virgen del Rocío, Sevilla, España.

Servicio de Traumatología Infantil, Hospitales Universitarios Virgen del Rocío, Sevilla, España.

出版信息

Rev Esp Cir Ortop Traumatol. 2014 May-Jun;58(3):171-81. doi: 10.1016/j.recot.2013.12.001. Epub 2014 Apr 14.

Abstract

The prevalence of bone dysplasias is estimated to be one case per 1,000 inhabitants, which suggests that, at some point in the career of an orthopaedic surgeon, he will face with one of these patients. The aim of this paper is to review the general aspects of bone dysplasias and focus on those, which due to their frequency and importance, we consider most relevant (achondroplasia, multiple epiphyseal dysplasia, spondyloepiphyseal dysplasia, osteogenesis imperfecta), reviewing their fundamental features and the latest therapeutic advances. There is no cure for these diseases, so early diagnosis and appropriate therapeutic management, becomes the key to improving quality of life of these patients.

摘要

骨发育异常的患病率估计为每1000名居民中有1例,这表明在骨科医生的职业生涯中的某个时候,他将会遇到这些患者中的一位。本文的目的是回顾骨发育异常的一般情况,并聚焦于那些因其发病率和重要性而被我们认为最相关的疾病(软骨发育不全、多发性骨骺发育异常、脊椎骨骺发育异常、成骨不全),回顾它们的基本特征和最新的治疗进展。这些疾病无法治愈,因此早期诊断和适当的治疗管理成为改善这些患者生活质量的关键。

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