Osteogenesis Imperfecta Symptoms

OSTEOGENESIS IMPERFECTA

DESCRIPTION

Osteo-genesis imperfecta is an inherited bone disorder that is present at birth. It is also known as brittle bone disease. A child born with osteo-genesis imperfecta may have soft bones that break easily, bones that are not formed normally, and other problems, signs and symptoms may range from mild to severe

Symptoms –

Bone deformity and pain

Bruising easily

Difficulty breathing

Hearing loss

Loose joints or muscle weakness

Curved spine

Small stature

Triangular face shape

Weak, brittle or discolored teeth

Blue sclerae

Risk factors – osteo-genesis imperfecta is caused by a faulty gene that affects the body’s ability to produce collagen. The quantity of collagen. The quantity of collagen produced is either lower or a poorer quality. If one parent has osteo-genesis imperfecta, a child has a 50% chance of having the condition. Sometimes, however the disease appears in children who have no family history of osteo-genesis imperfecta

Diagnosis and test – diagnosis of osteogenesis imperfecta may be done prenatally, clinically, radiographically or via biochemical or genetic examination. Medical treatment consists of bisphosphonate use, even in patients younger than age 2 years. Surgical treatment consists of internal splittin of long bones

Treatment –

splint and orthopedic cast

medications

surgery