Bone and Joint Dysplasias

  • William A. Horton


Bone dysplasias are a broad group of conditions in which skeletal development and function are disturbed. They include the chondrodysplasias and osteochondroses discussed in this chapter, as well as osteodysplasias, such as osteogenesis imperfecta syndromes (discussed in Chapter 31), and many others that are either extremely rare or of little relevance to rheumatology.


Club Foot Cartilage Oligomeric Matrix Protein Cartilage Oligomeric Matrix Protein Multiple Epiphyseal Dysplasia Thanatophoric 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 extra-cellular 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.CrossRefPubMedGoogle Scholar
  6. 6.
    Hall CM. International nosology and classification of constitutional disorders of bone (2001). Am J Med Genet 2002;113:65–77.CrossRefPubMedGoogle 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; 1985.Google 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 CI Jr, 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– 814.Google 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.Research Center/Molecular and Medical Genetics, Shriners Hospital for ChildrenPortlandUSA
  2. 2.Oregon Health and Science UniversityPortlandUSA

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