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Osteogenesis impefecta: Treatment, symptoms, advice and help


About osteogenesis imperfecta

Osteogenesis imperfecta is an inherited condition characterized by the fragility of the skeletal system and a susceptibility to fractures of the long bones or vertebral compressions. Osteogenesis imperfecta (OI) also called as brittle bone disease is the most common genetic cause of osteoporosis.

Osteogenesis imperfecta: Incidence, age and sex

Osteogenesis imperfecta is an autosomal dominant disorder that occurs in all racial and ethnic groups. The incidence of OI that is detectable in infancy is about 1 / 20, 000.

Signs and symptoms of osteogenesis imperfecta: Diagnosis

Osteogenesis imperfecta has the triad of fragile bones, blue sclerae and early deafness. There are four types based on clinical and radiographic criteria. Other connective tissue abnormalities include easy bruising, joint laxity and mild short stature compared with family members. Fractures result from mild to moderate trauma and decrease after puberty. In type II (Perinatal /Lethal) the infants may be stillborn or die in the 1st year of life due to extreme fragility of the skeleton and other connective tissue. Type III (Progressive Deforming) is the most severe nonlethal form of osteogenesis imperfecta and results in significant physical disability. Virtually all type III patients have scoliosis and vertebral compression. Type IV (Moderately Severe) patients present at birth with in-utero fractures or bowing of lower long bones. They may also present with recurrent fractures after ambulation. Severe osteogenesis imperfecta can be detected prenatally by ultrasonography as early as 15 weeks of gestation. In the neonatal period, the normal to elevated alkaline phosphatase levels present in OI distinguishes it from hypophosphatasia.

Causes and prevention of osteogenesis imperfecta

A genetic mutation results in structural or quantitative defects in type I collagen. Classical osteogenesis imperfecta is an autosomal dominant disorder. Some familial ocurrences of osteogenesis imperfecta are caused by parental mosaicism for dominant collagen mutations.

Osteogenesis imperfecta: Complications

The morbidity and mortality of OI are due to cardiopulmonary complications. Recurrent pneumonias and declining pulmonary function occur in childhood and cor pulmonale is seen in adults. Neurologic complications include basilar invagination, brainstem compression, hydrocephalus, and syringohydromyelia.

Osteogenesis imperfecta: Treatment

There is no cure for osteogenesis imperfecta. For severe non-lethal osteogenesis imperfecta active physical rehabilitation in the early years, allows children to attain a higher functional level than does orthopedic management alone.

Long leg plastic braces, gait aids and a programme of swimming and conditioning helps to improve quality of life. Severely affected individuals require a wheelchair for community mobility but can acquire self-care skills. Teens with osteogenesis imperfecta may require psychological support with body image issues.

Orthopedic management of osteogenesis imperfecta is aimed at fracture management and correction of deformity to enable function. Growth hormone improves bone histology in growth hormone-responsive children. A short course of treatment of children with osteogenesis imperfecta with bisphosphonates (IV pamidronate or oral olpadronate) confers some benefits.