Osteogenesis Imperfecta

Comprises a hetrogeneous group of disorders Characterized by abnormality in Type 1 collagen Commonly manifests as fragility of bones. Other Names: Brittle Bones , Lobstein Disease.

Clinical Description of the Disorder

The disease is characterized by easy fracturing of bones, growth deficiency, abnormal teeth, thin skin, blue sclera,hearing loss,spine deformites & joint hyperextensibility. All forms of osteogenesis Imperfecta include fragile bones and frequent bone fracture.

Type I
Most Common and mildest form Affected patient have mild to moderately severe bone fragility Most fracture occuring during the preschool years and are less common after puberty Sclera is blue Easy bruising Hearing loss Life expectancy is normal Opalescent dentin Autosomal dominent

Type II
Most severe form Exhibit extreme bone fragility & frequent fracture which may occur during delivery Many patient are still born & die before 4 weeks of age. The sclera is blue Opalescent teeth may be present Hearing not affected Both autosomal dominent and recessive pattern may occur.

 Type III
Most severe form noted beyond the perinatal period & demonstrate moderately to severe bone fragility. Sclera is normal or pale blue or grey at birth;if discoloration is present,it fades as the child grows older. Ligamentous laxity & hearing loss are common. Fracture maybe present at birth, but there is low mortality in infancy. Hearing not affected Majority of affected individuals die during childhood,usually from cardiopulmonary complications caused by kyphoscoliosis. Opalescent dentin may be seen. Both autosomal dominent & recessive.

 Type IV
Mild to moderately severe bone fragility. Sclera may be pale blue in early childhood, but blue colour fades later in life. Hearing not affected Fracture present at birth in about 50% of these patients & frequency of fracture decreases after puberty Some patient have opalescent dentin others have normal teeth. Autosomal dominent trait

Radiographic Features
The radiographic hallmarks of osteogenesis imperfecta include: Osteopenia, Bowing, Angulation deformity of long bones. Multiple fractures & bones in the skull.

or wormian

Detection
The way to determine if a person has osteogenesis imperfecta is by checking the persons symptoms such as: Sclera color Teeth may be yellow or even grayish blue Parent genes Number of Fractures through infancy

Physical Examination

Tests

It may confirm the presence of fractures, deformities, and other symptoms

Bone X-rays
It may show multiple healed fractures

Treatment
There is no cure for osteogenesis imperfecta, so treatment focuses on reducing the number and frequency of fractures.

Medication
Bisphosphonates
Pamidronate

Pain relief Decrease of incidence of fractures No effects on growth were reported

Hormone Replacement Therapy

Strongly recommended in postmenopausal women with OI

Medication
To protect patients with OI from trauma and repeated immobilization by the fractures is required Vitamin D and calcium in children and adults.

Calcium

Orthopedic Treatment
The treatment of spinal deformities varies with the angle of the scoliosis. After a fracture, prolonged immobilization should be avoided. Rehabilitation therapy should started early. The goal of fracture management should be to restore the patient to selfsufficiency as completely and rapidly as possible.