Osteogenesis Imperfecta

There is a great variation in the symptoms and severity. The more severe forms have multiple fractures, scoliosis and bowed bones and the milder form few or no fractures. Joint hypermobility and dental problems are also common.

It can be easy to suspect OI when typical symptoms, but sometimes more difficult. The diagnosing of OI requires a multidisciplinary approach, many specialties are involved. It can be diagnosed already prenatal when the ultrasound shows bowed bone and fracture in the long bone in the severe forms. The diagnosis is made from a detailed medical and family history, physical examination, symptoms, and radiological findings. The genetic testing is although the crucial diagnostic tool that identify the gene mutation.

Depending on the severity, many patients need Bisphosphonate treatment to improve bone density, reduce the fracture risk and the pain. The fractures of the long bone are treated with intramedullary telescoping rods that allows the bone to grow with maintained stability. Preventive bone straightening and rodding operations are also part of the treatment and starts early in life around one year of age. The fractures in children with OI needs specialized treatment and light plasters.

The treatments of patients with OI have advanced over the last decades and the pediatric OI team at the Astrid Lindgren Children’s hospital is in the topline in the world with over 30 years of clinical experience and research in the field. The OI-team for children and adolescents is multidisciplinary and consists of; pediatrician/pediatric neurologist, pediatric orthopedic surgeon, clinical geneticians, pediatric radiologist, physiotherapist, occupational therapist, pediatric nurse, pediatric dentist, and orthopedic engineer. The OI Team has for many years got referrals from the whole country and have developed recommendations for the treatment. All aspects of OI are assessed and for each child an individual care plan is provided. Treatment proposals are returned to the home clinic for medical treatment. Most of the surgeries are performed at Astrid Lindgren Children´s Hospital because these operations require highly specialized care and should be performed by a pediatric orthopedic surgeon who is used to both the procedures and the diagnosis. Assessment is also made by a spine surgeon and orthopedic engineer with experience in scoliosis treatment in children with OI.

Most children and adolescents with OI and long-term functional disabilities have an established connection with habilitation services, while others are followed up by their local pediatrician with support from the OI team. Individual OI Team visits are tailored to the patient´s symptoms, in between the visit telephone consultations are common. There is always a possibility to ask questions to the team.