Bone and Joint Dysplasias

  • William A. Horton


  • ■Chondrodysplasias are inherited disorders of cartilage that affect its function as a template for bone growth.

  • ■Problems common to many chondrodysplasias are respiratory distress, osteoarthritis of the weightbearing joints, dental crowding, obesity, obstetrical difficulties, and psychological issues due to short stature.

  • ■The osteochondroses are a heterogeneous group of disorders in which localized non-inflammatory arthropathies result from regional disturbances of skeletal growth.


Club Foot Cartilage Oligomeric Matrix Protein Osteochondritis Dissecans Cartilage Oligomeric Matrix Protein Multiple Epiphyseal Dysplasia 
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  1. 1.
    Horton WA, Hecht JT. The chondrodysplasias: general concepts and diagnostic and management considerations. In: Royce PM, Steinman B, eds. Connective tissue and its heritable disorders. 2nd ed. New York: Wiley-Liss; 2002: 641–676.Google Scholar
  2. 2.
    Rimoin D, Lachman R, Unger S. Chondrodysplasias. In: Rimoin DS, Connor JM, Pyeritz RE, Korf BR, eds. Emery and Rimoin’s principles and practice of medical genetics. 4th ed. London: Churchill Livingstone; 2002:4071–4115.Google Scholar
  3. 3.
    Sponseller PD, Ain MC. The skeletal dysplasias. In Morrissy RT, Weinstein SL, eds. Lovell & Winter’s pediatric orthopaedics. 6th ed. Philadelphia: Lippincott Williams &Wilkins; 2006:205–250.Google Scholar
  4. 4.
    Morris NP, Keene DR, Horton WA. Biology of extracellular matrix: cartilage. In Royce PM, Steinman B, eds. Connective tissue and its heritable disorders. 2nd ed. New York: Wiley-Liss; 2002:41–66.Google Scholar
  5. 5.
    Horton WA. Molecular genetic basis of the human chondrodysplasias. Endocrinol Metab Clin North Am 1996;25:683–697.PubMedCrossRefGoogle Scholar
  6. 6.
    Hall CM. International nosology and classification of constitutional disorders of bone (2001). Am J Med Genet 2002;113:65–77.PubMedCrossRefGoogle Scholar
  7. 7.
    Spranger J, Maroteaux P. The lethal osteochondrodysplasias. Adv Hum Genet 1995;19:1–103.Google Scholar
  8. 8.
    Spranger JW, Brill PW, Poznanski A. Bone dysplasias, an atlas of genetic disorders of skeletal development. 2nd ed. New York: Oxford University Press; 2002.Google Scholar
  9. 9.
    Wynne-Davies R, Hall CM, Apley AG. Atlas of skeletal dysplasias. Edinburgh: Churchill Livingstone; 1985Google Scholar
  10. 10.
    Tabyi H, Lachman RS. Radiology of syndromes, metabolic disorders, and skeletal dysplasias. 4th ed. St. Louis: Mosby; 1996.Google Scholar
  11. 11.
    Scott CIJr, Mayeux N, Crandall R, Weiss J. Dwarfism, the family and professional guide. Irvine, CA: Short Stature Foundation & Information Center, Inc.; 1994.Google Scholar
  12. 12.
    Sharrard WJW. Abnormalities of the epiphyses and limb inequality. In: Paediatric orthopaedics and fracture. 3rd ed. Oxford: Blackwell Scientific Publications; 1993:719–814Google Scholar
  13. 13.
    Herring JA, ed. Disorders of the knee/Disorders of the leg/Disorders of the foot [three chapters]. In: Tachdjian’s pediatric orthopedics, 3rd ed. Philadelphia: Saunders; 2002:789–838, 839-890, 891-1038.Google Scholar

Copyright information

© Springer Science+Business Media, LLC. 2008

Authors and Affiliations

  • William A. Horton
    • 1
    • 2
  1. 1.Oregon Health and Science UniversityPortlandUSA
  2. 2.Research Center/Molecular and Medical GeneticsShriners Hospital for ChildrenPortlandUSA

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