Osteogenesis Imperfecta

Osteogenesis Imperfecta

connective tissue disorder that affects the formation of collagen during bone development

• four classifications of osteogenesis imperfecta that vary in level of severity

Etiology:

• genetic inheritance with types I and IV considered autosomal dominant traits

• types II and III considered autosomal recessive traits

Signs and symptoms:

• pathological fractures

• osteoporosis

• hypermobile joints

• bowing of the long bones

• weakness

• scoliosis

• impaired respiratory function

Treatment:

• management begins at birth with caregiver education on proper handling and facilitation of movement

• PT focus on active ROM emphasizing symmetrical movements, positioning, functional mobility, fracture management, and use of orthotics