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 As collagen is an important protein in bone structure, this impairment causes those with the condition to have weak or fragile bones.

Brittle bone disease syndrome also known as osteogenesis imperfecta. Osteogenesis imperfecta” means imperfect bone formation. People with this condition have bones that break easily, often from mild trauma or with no apparent cause. People with OI are born without the proper protein (collagen), or the ability to make it, usually because of a deficiency of Type-I collagen. People with OI either have less collagen than normal or the quality is poorer than normal.

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Genetic mutations, or alterations in an individual’s genome, can be inherited, affecting cells that perpetually divide (germ-line mutations), or they can occur at any point during a person’s life.

Dentinogenesis imperfecta is a disorder of tooth growth. This circumstance is inherited in an autosomal predominant form, which means one transcript of the altered gene in each cubicle is adequate to induce the disorder. There are three types of dentinogenesis imperfecta. Type I is associated with osteogenesis imperfecta. Type II was previously found to be linked to altered glycosaminoglycan concentrations. Type III is the brandywine form, named for the city brandywine, maryland, where there was a large population of patients with this disorder. Type III tends to be less severe than type II. The severity of discoloration and enamel fracturing in all dentinogenesis imperfecta types is highly variable even within the same family.

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