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三种遗传性肌肉骨骼疾病的影响：软骨发育不全、杜氏肌营养不良症和成骨不全症的比较综述

Impact of three genetic musculoskeletal diseases: a comparative synthesis of achondroplasia, Duchenne muscular dystrophy and osteogenesis imperfecta.

作者信息

Dogba Maman Joyce, Rauch Frank, Douglas Erin, Bedos Christophe

机构信息

Shriners Hospital for Children, 1529 Cedar Avenue, H3G 1A6, Montreal, QC, Canada.

Department of family and emergency medicine, Faculty of Medicine, Université Laval, 1050 Medicine Avenue, Quebec, G1V0A6, Canada.

出版信息

Health Qual Life Outcomes. 2014 Oct 25;12:151. doi: 10.1186/s12955-014-0151-y.

DOI:10.1186/s12955-014-0151-y
PMID:25649344
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC4332447/
Abstract

Achondroplasia, Duchenne muscular dystrophy, and osteogenesis imperfecta are among the most frequent rare genetic disorders affecting the musculoskeletal system in children. Rare genetic disorders are severely disabling and can have substantial impacts on families, children, and on healthcare systems. This literature review aims to classify, summarize and compare these non-medical impacts of achondroplasia, Duchenne muscular dystrophy and osteogenesis imperfecta.

摘要

软骨发育不全、杜氏肌营养不良症和成骨不全是影响儿童肌肉骨骼系统的最常见的罕见遗传疾病。罕见遗传疾病会导致严重残疾，对家庭、儿童及医疗保健系统都会产生重大影响。本综述旨在对软骨发育不全、杜氏肌营养不良症和成骨不全的这些非医学影响进行分类、总结和比较。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1e4c/4332447/4d6fbb9eaaff/12955_2014_151_Fig2_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1e4c/4332447/749177c56fe5/12955_2014_151_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1e4c/4332447/4d6fbb9eaaff/12955_2014_151_Fig2_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1e4c/4332447/749177c56fe5/12955_2014_151_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1e4c/4332447/4d6fbb9eaaff/12955_2014_151_Fig2_HTML.jpg

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The impact of severe osteogenesis imperfecta on the lives of young patients and their parents - a qualitative analysis.严重成骨不全症对年轻患者及其父母生活的影响 - 定性分析。
BMC Pediatr. 2013 Sep 30;13:153. doi: 10.1186/1471-2431-13-153.
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