99. Osteogenesis Imperfecta

  1. Clifford J. Rosen MD
  1. Joan C. Marini

Published Online: 19 JUL 2013

DOI: 10.1002/9781118453926.ch99

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

Marini, J. C. (2013) Osteogenesis Imperfecta, 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.ch99

Publication History

  1. Published Online: 19 JUL 2013

ISBN Information

Print ISBN: 9781118453889

Online ISBN: 9781118453926

SEARCH

Keywords:

  • dual energy X-ray absorptiometry;
  • osteogenesis imperfecta (OI);
  • radiography

Summary

This chapter outlines the clinical presentation, radiographic and dual energy X-ray absorptiometry features, laboratory findings, etiology and pathogenesis, and treatment of osteogenesis imperfecta (OI), OI also known as brittle bone disease, is a genetic disorder of connective tissue characterized by fragile bones and a susceptibility to fracture from mild trauma and even acts of daily living. The clinical range of this condition is extremely broad, ranging from cases that are lethal in the perinatal period to cases that may be difficult to detect and can present as early osteoporosis. Individuals with OI may have varying combinations of growth deficiency, defective tooth formation (dentinogenesis imperfecta), hearing loss, macrocephaly, blue coloration of sclerae, scoliosis, barrel chest, and ligamentous laxity.