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Osteogenesis imperfecta

Osteogenesis imperfecta

About osteogenesis imperfecta

Osteogenesis imperfecta (OI) is a rare genetic disorder characterized by bones that break easily. People with OI can break bones with minimal or no known trauma. This condition can present in many different ways and the severity of this disorder ranges from very mild to severe. Some infants sustain fractures even before birth, while other children show symptoms later in life with frequent broken bones. In addition to having fractures, people with OI also have dental problems, progressive hearing loss, muscle weakness, loose joints and/or skeletal malformations. Depending on the type of OI, these children may have short stature, spinal curvature (scoliosis), chest wall deformities and multiple recurrent fractures. They may have progressive bowing and malformation of long bones. These children often require surgical correction of long bone deformities and scoliosis.

OI is cause by a mutation in a gene that affects bone formation, strength and structure. There are four main types of OI. These types are distinguished mostly by fracture frequency and severity and by characteristic features. In recent years new genes have been discovered but the majority (90 percent) of patients have a single dominant mutation in one of two type I collagen genes: COL1A1 and COL1A2. This mutation can be inherited from an affected parent, by a spontaneous mutation or change in the type 1 collagen gene.

For more detailed information about osteogenesis imperfecta, visit:

Care at Shriners Healthcare for Children — Florida

Shriners Healthcare for Children — Florida has been caring for children with osteogenesis imperfecta since the facility opened in 1985. We have been offering bisphosphonates therapy for more than 20 years. Over the past year we have expanded our multidisciplinary team. We are working every day to find ways to improve our care of these children. Currently, our team includes orthopaedic surgeons, endocrinologists, physical therapists, occupational therapists, nutritionists, social workers, a pulmonologist and very experienced registered nurses.

Shriners Healthcare for Children — Florida is participating in a natural history study of children with osteogenesis imperfecta (OI). The Longitudinal Study of Osteogenesis Imperfecta was started as part of the Linked Clinical Research Centers program, established by the OI Foundation and the Children’s Brittle Bone Foundation. The study has been extended and expanded through the Brittle Bone Disorders Consortium and is funded by the National Institutes of Health.

We continue to work with hospitals and centers around the country to learn from their centers of excellence in osteogenesis imperfecta and grow our center of excellence.

If your child has been diagnosed with osteogenesis imperfecta or is suspected to have osteogenesis imperfecta, please feel free to contact our care management director at 813-972-2250, ext. 7552 for more information. We have a full, experienced multidisciplinary team waiting to care for you and your family.