Osteogenesis Imperfecta
Connective Tissue Disorder
Symptoms
Blue sclerae
Triangular facies
Macrocephaly
Hearing loss
Defective dentition
Barrel chest
Scoliosis
Limb deformities
Fractures
Joint laxity
Growth retardation
Pathogenesis
Diagnosis
Treatment
There is no cure for OI. There is treatment available for preventing or controlling the symptoms, maximizing independent mobility, and maintaining optimal bone mass and muscle strength. Care of fractures, surgical and dental procedures, and physical therapy are often treatments used for people with OI. Use of wheelchairs, braces, and other mobility aids are also common. Exercise helps promote muscle and bone strength, which can also help prevent fractures. Swimming and water therapy are common exercise choices for people with OI, because water allows independent movement with little risk of fracture. Walking is also a common exercise for patients with OI.
Prognosis
The prognosis for a person with OI depends on the number and severity of symptoms. Respiratory failure is the most common cause of death for people with OI, followed by accidental trauma. Despite the severity of the disease, most people with this disorder can live successful lives.