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Autosomal recessive osteopetrosis: diagnosis, management, and outcome
C J Wilsona, A Vellodiba Metabolic
Unit, Great Ormond Street Hospital for Children, Great Ormond Street,
London WC1N 3JH, UK, b Biochemistry, Endocrinology, and Metabolism
Unit, Institute of Child Health, London, UK
Correspondence to: Dr Wilson callumjwilson@yahoo.com
Accepted 18 July
2000
| The first 150 words of the full text of this article appear below. |
 |
Introduction |
|---|
Autosomal recessive "malignant" osteopetrosis is a
rare congenital disorder of bone resorption. It is caused by the
failure of osteoclasts to resorb immature bone.1-3 This
leads to abnormal bone marrow cavity formation and clinically to the
signs and symptoms of bone marrow failure. Impaired bone remodelling
causes bony narrowing of the cranial nerve foramina which results in
cranial nerve, especially optic nerve, compression.2
Pathologically there is a persistence of the primary spongiosa
characterised by cores of calcified cartilage within bone. Abnormal
remodelling of primary, woven bone to lamellar bone results in
"brittle" bone that is prone to fracture.1 2 Thus
fractures, visual impairment, and bone marrow failure are the classical
feature of the disease.4 Osteopetrosis has been reported
in most ethnic groups although as the disease is very rare it is more
frequently seen in ethnic groups where consanguinity is common.
Infantile onset osteopetrosis should also be distinguished from the
much
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Arch. Dis. Child. 2001 84: 168.[Extract] [Full Text] [PDF]
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