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Orthopädie und Unfallchirurgie up2date 2016; 11(03): 199-219
DOI: 10.1055/s-0041-107258
Systemerkrankungen
Georg Thieme Verlag KG Stuttgart · New York

Skelettale Entwicklungsstörungen

S. Koob
1   Klinik und Poliklinik für Orthopädie und Unfallchirurgie, Universitätsklinikum Bonn
,
C. Marx
2   Radiologische Klinik, Universitätsklinikum Bonn
,
R. Placzek
1   Klinik und Poliklinik für Orthopädie und Unfallchirurgie, Universitätsklinikum Bonn
› Author Affiliations
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Publication History

Publication Date:
31 May 2016 (online)

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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
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