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Metabolic disease of skeleton and inherited disorders 

Metabolic disease of skeleton and inherited disorders
Chapter:
Metabolic disease of skeleton and inherited disorders
Author(s):

Paul Wordsworth

DOI:
10.1093/med/9780199550647.003.010001
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date: 12 December 2019

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.

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