Chapter

Bone diseases, skeletal dysplasias, disorders of collagen

Edited by Helen Foster and Paul A. Brogan

in Paediatric Rheumatology

Published on behalf of Oxford University Press

Published in print June 2012 | ISBN: 9780199592630
Published online July 2012 | e-ISBN: 9780191740855 | DOI: http://dx.doi.org/10.1093/med/9780199592630.003.0005

Series: Oxford Specialist Handbooks

Bone diseases, skeletal             dysplasias, disorders of collagen

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Metabolic bone diseases 330

Skeletal dysplasias 333

The osteochondroses 343

Heritable disorders of connective tissue 346

Principal features are bone fragility and low bone mass leading to fractures and bone deformity with growth retardation.

Ligamentous laxity, dentinogenesis imperfecta, and blue scleral hue are variable features. 90% of OI dominantly inherited due to defects in the type ↑ collagen genes ...

Chapter.  5263 words. 

Subjects: Paediatrics ; Rheumatology

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