Osteopetrosis

http://www.orthobullets.com/pediatrics/4103/osteopetrosis

Osteopetrosis
Author: Jason McKean
Topic updated on 02/02/14 3:25pm

Introduction

A metabolic bone disease caused by defective osteoclastic resorption of immature bone
Pathophysiology
inability to cause acidification in the clear zone and therefore preventing bone resorption
leads to dense bone and obliterated medullary canal
may be linked to a defect in the thymus
Genetics
see classification
Prognosis
autosomal recessive is lethal and often causes death in infancy
autosomal dominant is compatible with life but associated with morbidity (see below)