[骨骼发育不良-多学科骨科]。

IF 0.5
B Kraler, C Chiari, S Farr, A Kranzl, T Kainz, J Patsch, G Mindler
{"title":"[骨骼发育不良-多学科骨科]。","authors":"B Kraler, C Chiari, S Farr, A Kranzl, T Kainz, J Patsch, G Mindler","doi":"10.1007/s00132-025-04676-x","DOIUrl":null,"url":null,"abstract":"<p><p>Skeletal dysplasias (SD) are a heterogeneous group of rare hereditary diseases with pronounced skeletal involvement and include over 750 phenotypes, which are associated with disease-triggering variants in more than 550 genes. In addition to orthopedic treatment, a network of various disciplines is necessary to ensure high-quality diagnostics and treatment for SD. This is ideally carried out at a center specialized in the treatment of rare bone diseases (European Reference Network on Rare Bone Diseases). The close networking of orthopedics with pediatrics and other disciplines is important to enable a state-of-the-art treatment and to monitor the influences of new forms of pharmacotherapy on the musculoskeletal apparatus.</p>","PeriodicalId":74375,"journal":{"name":"Orthopadie (Heidelberg, Germany)","volume":" ","pages":""},"PeriodicalIF":0.5000,"publicationDate":"2025-07-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"[Skeletal dysplasias-Multidisciplinary orthopedics].\",\"authors\":\"B Kraler, C Chiari, S Farr, A Kranzl, T Kainz, J Patsch, G Mindler\",\"doi\":\"10.1007/s00132-025-04676-x\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>Skeletal dysplasias (SD) are a heterogeneous group of rare hereditary diseases with pronounced skeletal involvement and include over 750 phenotypes, which are associated with disease-triggering variants in more than 550 genes. In addition to orthopedic treatment, a network of various disciplines is necessary to ensure high-quality diagnostics and treatment for SD. This is ideally carried out at a center specialized in the treatment of rare bone diseases (European Reference Network on Rare Bone Diseases). The close networking of orthopedics with pediatrics and other disciplines is important to enable a state-of-the-art treatment and to monitor the influences of new forms of pharmacotherapy on the musculoskeletal apparatus.</p>\",\"PeriodicalId\":74375,\"journal\":{\"name\":\"Orthopadie (Heidelberg, Germany)\",\"volume\":\" \",\"pages\":\"\"},\"PeriodicalIF\":0.5000,\"publicationDate\":\"2025-07-11\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Orthopadie (Heidelberg, Germany)\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.1007/s00132-025-04676-x\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Orthopadie (Heidelberg, Germany)","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1007/s00132-025-04676-x","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
引用次数: 0

摘要

骨骼发育不良(SD)是一组罕见的遗传性疾病,具有明显的骨骼病变,包括750多种表型,这些表型与550多种基因的疾病触发变异相关。除了骨科治疗外,要保证SD的高质量诊断和治疗,还需要一个多学科的网络。最理想的是在专门治疗罕见骨病的中心进行(欧洲罕见骨病参考网络)。骨科与儿科学和其他学科的密切联系对于实现最先进的治疗和监测新形式的药物治疗对肌肉骨骼装置的影响是重要的。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
[Skeletal dysplasias-Multidisciplinary orthopedics].

Skeletal dysplasias (SD) are a heterogeneous group of rare hereditary diseases with pronounced skeletal involvement and include over 750 phenotypes, which are associated with disease-triggering variants in more than 550 genes. In addition to orthopedic treatment, a network of various disciplines is necessary to ensure high-quality diagnostics and treatment for SD. This is ideally carried out at a center specialized in the treatment of rare bone diseases (European Reference Network on Rare Bone Diseases). The close networking of orthopedics with pediatrics and other disciplines is important to enable a state-of-the-art treatment and to monitor the influences of new forms of pharmacotherapy on the musculoskeletal apparatus.

求助全文
通过发布文献求助,成功后即可免费获取论文全文。 去求助
来源期刊
自引率
0.00%
发文量
0
×
引用
GB/T 7714-2015
复制
MLA
复制
APA
复制
导出至
BibTeX EndNote RefMan NoteFirst NoteExpress
×
提示
您的信息不完整,为了账户安全,请先补充。
现在去补充
×
提示
您因"违规操作"
具体请查看互助需知
我知道了
×
提示
确定
请完成安全验证×
copy
已复制链接
快去分享给好友吧!
我知道了
右上角分享
点击右上角分享
0
联系我们:info@booksci.cn Book学术提供免费学术资源搜索服务,方便国内外学者检索中英文文献。致力于提供最便捷和优质的服务体验。 Copyright © 2023 布克学术 All rights reserved.
京ICP备2023020795号-1
ghs 京公网安备 11010802042870号
Book学术文献互助
Book学术文献互助群
群 号:604180095
Book学术官方微信