Chapter

Metabolic disease of skeleton and inherited disorders

Paul Wordsworth

in Oxford Textbook of Trauma and Orthopaedics

Second edition

Published on behalf of Oxford University Press

Published in print August 2011 | ISBN: 9780199550647
Published online April 2011 | e-ISBN: 9780199608249 | DOI: http://dx.doi.org/10.1093/med/9780199550647.003.010001

Series: Oxford Textbooks

Metabolic disease of skeleton and inherited disorders

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Classic metabolic bone diseases include osteoporosis, osteomalacia, Paget’s disease, and parathyroid bone disease

Heritable disorders of the skeleton include numerous osteochrondrodysplasias, Marfan syndrome, and Ehlers-Danlos syndrome

Investigation of short stature is indicated for those below 0.4 percentile, with skeletal disproportion and/or progressive shortness

Genetic mutations for most of these conditions have been identified but clinical/radiographic features are usually diagnostic.

Chapter.  6989 words.  Illustrated.

Subjects: Trauma and Orthopaedic Surgery ; Rheumatology

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