Question

osteogenisis imperfecta

Answer 1

Definition:

Osteogenesis imperfect is also known as brittle bone disease. It is a group of genetic disorders which mainly affects bones.

Causes:

                Mainly due to defect in the gene that produces protein collagen.

Signs and symptoms:

· Easily breakable bones even for minor injury.

· Bone pain

· Scoliosis, Bowlegs

· Short stature

· Teeth brittleness{ Dentinogenesis imperfect}

· Whites of the eyes

· Triangular face shape

· Loose joints

Types:

· Type I osteogenesis imperfect

They have less collagen and no deformities. Usually bones start breaking when a child start to walk.

· Type II osteogenesis imperfect

Babies with this type usually will not survive due to breathing problems. They are born with many fractures.

· Type III osteogenesis imperfect

This type of people will be mostly short stature, brittle and will have severe deformities.

· Type IV osteogenesis imperfecta

People with this type have moderate to severe bone deformities, curved spine, frequent fractures which may lessen after puberty.

Diagnostic studies:

· X ray

· DNA tests

· Biochemical testing- for skin sampling

· Blood and urine tests

Treatment:

There is no cure for this disease.

Symptom based treatments are provided which includes physical therapy, mobility aides, occupational therapy.

Prevention of bones from breakage:

                The main aim is to prevent the people from breakage of their bones.

· Avoid activities which causes stress to bones

· Less impact exercises like swimming are encouraged to develop muscle strength.

Conclusion:

                Pain is very common in children with OI. It is both acute and chronic in nature. Since the disease is not curable, preventive measures should be considered more important.