A little while back, we asked for help on getting out more content. David Wright and Kate Randolph answered that call and provided a special podcast on osteogenesis imperfecta. We hope you enjoy this unique podcast and encourage you to reach out if you want to contribute, as well.
Osteogenesis imperfecta (OI), often known as brittle bone disease, is a rare inherited connective tissue disorder. It is found in 1 in every 20,000 births. It is considered an orphan disease (one with less than 200,000 patients).
There are many types of OI, but the most common is type 1 and is often not diagnosed until fractures are seen with walking. The various types are discussed further in the recorded podcast. It also includes common clinical presentations which can be quite various based on the types.
Often, the concern fornon-accidental trauma is the primary concern. However, there are cases with this occurring while the patient also does have a diagnosis of OI. Often, OI will not come with other suspicious injuries such as intracranial hemorrhage, pancreatitis, splenic injury, retinal injury, or visceral intramural hematoma.
When treating these patients, make sure not only to treat the fracture (including pain control), but to support the patient and family in the longer term. Counseling is often needed given the difficulties that arise and support groups can be helpful. There is also the Osteogenesis Imperfecta Foundation and the Brittle Bone Society that have resources and can help.
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