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Osteopetrosis and osteosclerosis 

Osteopetrosis and osteosclerosis
Chapter:
Osteopetrosis and osteosclerosis
Author(s):

Roger Smith

and Paul Wordsworth

DOI:
10.1093/med/9780199607990.003.0011
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date: 09 December 2019

An excessive amount of bone in the skeleton may result from failure of bone resorption or an increase in bone formation, or both. This chapter deals with osteopetrosis (Albers–Schönberg marble bone disease), and pyknodyostosis due to defects in the acidification machinery of the osteoclasts; and osteosclerosis including progressive diaphyseal dysplasia, sclerosteosis, melorheostosis and familial high bone density, some due to LRP5 mutations.

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