Other hereditary diseases Medical Assignment Help

Osteopetrosis (marble bone disease)

This condition may be inherited in either an autosomal dominant or an autosomal recessive manner; the recessive type is severe and the dominant type is mild. In the severe form, bone density is increased throughout the skeleton but bones tend to fracture easily. Involvement of the bone marrow leads to a leucoerythroblastic anaemia. There is mental retardation and early death.
In the mild form there may only be X-ray changes, but fractures and infection can occur. The acid phosphatase level is raised.


This rare autosomal recessive condition is due to a deficiency of alkaline phosphatase and pyrophosphatase. It is not known where the primary defect lies, but it may be in the osteoblasts. It varies in severity from unrnineralized bones in utero resulting in death, to rickets in infancy or recurrent fractures in adults.

Further reading

Huskisson EC & Hart FD (1987) Joint Disease: All the Arthropathies, 4th edn. Bristol: John Wright. Kelley WN et al (eds) (1993) Textbook of Rheumatology, 4th edn. Philadelphia: WB Saunders. Maddison PJ et al (eds) (1993) Oxford Textbook of Rheumatology. Oxford: Oxford University Press. McCarty OJ & Koopman WJ (eds) (l993) Arthritis and Allied Conditions: A Textbook of Rheumatology, l2th edn. Philadelphia: Lea & Febiger. Bilezikian JP (ed) (1994) The Parathyroids: Basic and Clinical Concepts. New York: Raven Press. Nordin BC (1993) Metabolic Bone and Stone Disease, 3rd edn. Edinburgh: Churchill Livingstone. Smith R (ed) (l990) Osteoporosis 1990. London: Royal
College of Physicians.

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