95. Osteochondrodysplasias

  1. Clifford J. Rosen MD
  1. Yasemin Alanay and
  2. David L. Rimoin

Published Online: 19 JUL 2013

DOI: 10.1002/9781118453926.ch95

Primer on the Metabolic Bone Diseases and Disorders of Mineral Metabolism, Eighth Edition

Primer on the Metabolic Bone Diseases and Disorders of Mineral Metabolism, Eighth Edition

How to Cite

Alanay, Y. and Rimoin, D. L. (2013) Osteochondrodysplasias, in Primer on the Metabolic Bone Diseases and Disorders of Mineral Metabolism, Eighth Edition (ed C. J. Rosen), John Wiley & Sons, Inc., Ames, USA. doi: 10.1002/9781118453926.ch95

Publication History

  1. Published Online: 19 JUL 2013

ISBN Information

Print ISBN: 9781118453889

Online ISBN: 9781118453926

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Keywords:

  • aggrecan group;
  • genetic skeletal disorders;
  • multidisciplinary approach;
  • osteochondrodysplasias;
  • skeletal dysplasias;
  • TRPV4 group

Summary

Osteochondrodysplasias is a genetic disorder of bone and/ or cartilage characterized by abnormalities in growth, development, and/or homeostasis of the human skeleton. Most of the molecules and pathways recognized to be essential for normal skeletal development have been identified by characterizing the genetic basis of the skeletal dysplasias. The evaluation of patients with skeletal dysplasias mandates a multidisciplinary approach involving clinical geneticists, radiologists, molecular biologists, and biochemical geneticists for diagnosis and a host of surgical specialists for management of their many complications. As the underlying molecular pathogenesis of phenotypically grouped entities are unraveled, the entities are reclassified according to gene or molecular pathway. Two newly formed groups (the TRPV4 group and the aggrecan group) in the latest Nosology are perfect examples.