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BRITTLE BONE

Osteogenesis Imperfecta also known as Brittle Bone disease, which is a large group of conditions characterised by fragility of the bones present from childhood.

The most common cause of the disorder is Osteogenesis Imperfecta, which is a group of conditions, all caused by inherited defects of collagen (the protein responsible for the strength of the bone). The severity of the condition may vary.

Some affected individuals may have multiple fractures, in others the condition is difficult to diagnose. It is conventional to describe four varieties of Osteogenesis Imperfecta.

TYPE II
Usually causes such severe fractures that infants are still born or die in the first few weeks of life.

TYPE III
Is severe, but consistent with good survival, although there may be markedly impaired growth.

TYPES I & IV
Are milder conditions with good stature and relatively few fractures. TYPE I is characterised by distinctly blue/grey sclerae (whites of the eyes). Which is not seen in TYPE IV.

Associated problems may include lax-joints, fragile teeth, excessive sweating and easy bruising.

Additionally, temporary Brittle Bone disease may cause fractures in the first year of life, and improve later. This is still not well understood. Fractures in childhood may also be caused by rickets due to vitamin D deficiency.

This crippling disorder causes frequent bone fractures, progressive deformities of the arms and legs, and chronic bone pain. Children born with Osteogenesis Imperfecta are often confined to wheelchairs, and sometimes don’t survive childhood.