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Orthopädie und Unfallchirurgie up2date 2016; 11(03): 199-219
DOI: 10.1055/s-0041-107258
DOI: 10.1055/s-0041-107258
Systemerkrankungen
Skelettale Entwicklungsstörungen
Weitere Informationen
Publikationsverlauf
Publikationsdatum:
31. Mai 2016 (online)
![](https://www.thieme-connect.de/media/ou-u2d/201603/lookinside/thumbnails/10-1055-s-0041-107258_ou634431_koob-1.jpg)
Die skelettalen Entwicklungsstörungen bilden eine heterogene Gruppe von 456 Entitäten, denen krankhafte Veränderungen der Knochen- oder Knorpelstruktur zugrunde liegen. Sie gehen für die Betroffenen teilweise mit großen Einbußen der Lebensqualität und Lebenserwartung einher und enden nicht selten bereits vor der Geburt letal. Während insbesondere durch die Verbesserung der molekulargenetischen Methoden die Pathogenese dieser Erkrankungen ergründet werden konnte, ist die Therapie nach wie vor beschränkt auf das Management der Symptome.
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Zum Weiterlesen und Vertiefen
- Warman ML, Cormier-Daire V, Hall C et al. Nosology and classification of genetic skeletal disorders: 2010 revision. Am J Med Genet Pt A 2011; 155?A: 943-968
- Harrington J, Sochett E, Howard A. Update on the evaluation and treatment of osteogenesis imperfecta. Pediat Clin North Am 2014; 61: 1243-1257
- Van Dijk FS, Sillence DO. Osteogenesis imperfecta: clinical diagnosis, nomenclature and severity assessment. Am J Med Genet Pt A 2014; 164?A: 1470-1481
- Ireland PJ, Pacey V, Zankl A et al. Optimal management of complications associated with achondroplasia. Appl Clin Genet 2014; 7: 117-125
- Bouali H, Latrech H. Achondroplasia: Current options and future perspective. Pediat Endocrinol Rev 2015; 12: 388-395
- Panda A, Gamanagatti S, Jana M, Gupta AK. Skeletal dysplasias: A radiographic approach and review of common non-lethal skeletal dysplasias. World journal of radiology 2014; 6: 808-825
- Wirth T. Spondyloepiphysäre und metaphysäre Dysplasie. Orthopäde 2008; 37: 8-16