Abstract
Osteogenesis imperfecta is an inheritable connective tissue disorder with variable phenotypic expression. Quantitative and qualitative of the genetic error in type I collagen formation are typical in the 90 percent of patients.
The major structural collagen of the skeletal system, including bone, ligament, and tendon, is type I collagen. Molecular genetic shows formation of mutant two separate genes - COLIA1 and COLIA2 located on the long arm of chromozome 7q and 17q.
This disorder results in varying degrees of skeletal vulnerability, ligamentous laxity and scleral discoloration. The clinical picture varies according to the variety of the disease.
Bone fragility and long bone deformities are of variable severity. Extreme bone fragility can lead to death in the perinatal period.
Sillence classification delineated four distinct types of osteogenesis imperfecta, based on clinical, genetic and X ray characteristics. Treatment includes rehabilitation program, medical treatment (bisphosphonate therapy) and orthopaedic treatment - typicle multiple diaphyseal osteotomies with intramedullary fixation (Kirschner wire, Prevot rod, Küntscher nail, telescoping medular rod).
There are many complications of a surgical technique for correction - migration of the rod, fracture of the bone, fracture of the wire, rod extrusion. The aim of orthopaedic surgery is to provide for ability to walk with bracing and decrease the number of fractures in patients with osteogenesis imperfecta.