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Heritable Disorders of Connective Tissues

  • B. Steinmann
  • A. Superti-Furga
  • P. M. Royce

Summary

Heritable disorders of connective tissues affect bones, skin, ligaments, eyes, heart, and blood vessels. Some of these conditions are severely disabling (osteogenesis imperfecta) or life threatening (Marfan syndrome, Ehlers-Danlos syndrome type IV) and impose medical, psychological, social, professional, and financial burdens. Since medical treatment is, at present, symptomatic, management focuses on recognizing abnormalities and changing the natural history of each clinical manifestation at as young an age as possible and on genetic counseling and prenatal diagnosis. Societies for patients with specific heritable disorders of connective tissue serve as important informational links to and from the medical community.

Keywords

Osteogenesis Imperfecta Marfan Syndrome Mitral Valve Prolapse Joint Hypermobility Menkes Disease 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

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Copyright information

© Springer-Verlag Berlin Heidelberg 1990

Authors and Affiliations

  • B. Steinmann
  • A. Superti-Furga
  • P. M. Royce

There are no affiliations available

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