Early surgical management of severe forms of osteogenesis imperfecta.

The early surgical management of severe osteogenesis imperfecta (OI) was studied in three children with autosomal recessive type III form of this disease. Each child had similar clinical and radiographic features at birth. The spine, pelvis, and thorax were osteoporotic but were well formed and free of major fractures. In contrast, the peripheral skeleton was severely affected with numerous new and old fractures. Conservative treatment of fractures was undertaken with a foam mould for the torso and limbs and additional support was provided for specific unstable painful fractures. However, fractures continued due to the extreme bone fragility and deformities. Surgical correction of deformities and internal splinting of the long bones with intramedullary rods was commenced between 18 months and 5 years of age. The shafts of the long bones were extremely fragile and lacked cortical bone. The osteotomies were undertaken with a scalpel. The fracture rate diminished rapidly but the non-extending rods needed shortening or replacing within 2 to 3 years. The combination of external and internal fixation and electric wheel chairs greatly reduced the frequency of fractures and facilitated the general care and development of these 3 children with a severe form of OI.