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Introduction to Diseases of Bone and Joints

Majid Ali, M.D.

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Miscellaneous Bone Disorders

Achondroplasia (circus dwarfs) is a heredofamilal bone disorder transmitted as dominant mendelian trait. It is characterized by failure of enchondral bone formation leading to dwarfism. As is well known, circus dwarfs are not mentally impaired.

Osteogenesis imperfecta (brittle bone syndrome) is characterized by defective synthesis of collagen and high incidence of fractures. Three subtypes include:

1. Osteogenesis imperfecta (present in utero);

2. Osteopsathyrosis occurs before or after birh; and

3. Brittle bone blue sclerae syndrome occurring in childhood.

Osteopetrosis (mable bone disorder) is characterized by sclerosis and marked thickening of bones. Despite thickening, such bones are brittle and fracture easily.

Gorgoylism (Hurler's syndrome) is a hereditary disease characterized by deformities of the skull and facial bones and stunted growth that create a likeness to the storied gorgoyle. It is a storage disease with accumulation of histiocytes laden with mucopolysaccharides or mucopolysaccharide-like substance. Othe features include hepatosplenomegaly caused by accumulation of mucopolysaccharides in the liver and spleen.

Related Tutorials

* Arthritis: Pathogenesis and Types

* URIC ACID: A DEMONIZED ANGEL

* Diseases of Bones and Joints

* Introduction to Diseases of Bone and Joints

 

 

 

 

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