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}
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.