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Angeborene Entwicklungsstörungen des Skeletts

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Pädiatrie

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Ätiologie. Osteochondrodysplasien sind überwiegend erblich bedingt. Erbgänge und molekulare Defekte, soweit bekannt, sind in Tab. 236.2 aufgeführt. Allele Defekte einzelner Gene können unterschiedliche Krankheitsbilder hervorrufen (Variabilität). Andererseits können ähnliche Krankheitsbilder durch Mutationen verschiedener Gene bedingt sein (Heterogenität).

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Literatur

  • Kornak U, Mundlos S (2003) Genetic disorders of the skeleton: a developmental approach. Am J Hum Genet 73: 447–474

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Spranger J, Brill P, Poznanski A (2002) Bone dysplasias, 2nd edn. Urban & Fischer, München

    Google Scholar 

  • Superti-Furga A, Bonafé L, Rimoin DL (2002) Molecular-pathogenetic classification of genetic disorders of the skeleton. Am J Med Genet 106: 282–293

    Article  Google Scholar 

  • Superti-Furga A, Unger S (2007) Nosology and classification of genetic skeletal disorders. Am J Gent 143 A1–18

    Google Scholar 

  • Taybi H, Lachman RS (2007) Radiology of syndromes, metabolic disorders, and skeletal dysplasias. Mosby, St Louis

    Google Scholar 

Literatur

  • Cohen MM, Maclean RE (2000) Craniosynostosis. Oxford University Press, New Oxford

    Google Scholar 

  • Stall G, Duboule D, Holmes LB, Spranger J (1998) Classification of limb defects. Am J Med Genet 77: 439–441

    Article  Google Scholar 

  • Superti-Furga A, Unger S; the ISDS Nosology Group (2007) International nosology and classification of genetic skeletal disorders — 2006 revision. Am J Med Genet 22: 329–333

    Google Scholar 

  • Taybi H, Lachman RS (1996) Radiology of syndromes, metabolic disorders, and skeletal dysplasias. Mosby, St Louis

    Google Scholar 

  • Wiedemann HR, Kunze J (2001) Atlas der klinischen Syndrome. Schattauer, Stuttgart

    Google Scholar 

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Author information

Authors and Affiliations

  1. Univ.-Kinderklinik, Langenbeckstr. 1, 55131, Mainz, Germany

    Prof. Dr. J. Spranger

  2. Zentrum für Kinderheilkunde und Jugendmedizin, Universitätsklinikum Freiburg, Mathildenstr. 1, 79106, Freiburg, Germany

    Prof. Dr. A. Superti-Furga

Authors
  1. Prof. Dr. J. Spranger
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  2. Prof. Dr. A. Superti-Furga
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Editor information

Editors and Affiliations

  1. Universitäts-Kinderklinik, Adenauerallee 119, 53113, Bonn, Germany

    Michael J. Lentze

  2. Universitäts-Kinderklinik, Martinistr. 52, 20246, Hamburg, Germany

    Franz J. Schulte

  3. Universitäts-Kinderklinik, Schwanenweg 20, 24105, Kiel, Germany

    Jürgen Schaub

  4. Universitäts-Kinderklinik, Langenbeckstr. 1, 55101, Mainz, Germany

    Jürgen Spranger

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© 2007 Springer Medizin Verlag Heidelberg

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Spranger, J., Superti-Furga, A. (2007). Angeborene Entwicklungsstörungen des Skeletts. In: Lentze, M.J., Schulte, F.J., Schaub, J., Spranger, J. (eds) Pädiatrie. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-540-76460-1_236

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  • DOI: https://doi.org/10.1007/978-3-540-76460-1_236

  • Publisher Name: Springer, Berlin, Heidelberg

  • Print ISBN: 978-3-540-71895-6

  • Online ISBN: 978-3-540-76460-1

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