Osteogenesis Imperfecta (Brittle Bone Disease)
Osteogenesis Imperfecta (OI), also known as "brittle bone disease", is an autosomal dominant bone disorder characterized by fragile bones that break easily.
Specifically, Osteogenesis Imperfecta is caused by defects in Type I Collagen, a key component of bone. Patients present with recurrent fractures (distinguish vs. child abuse), blue sclera (translucency with visible choroidal veins), tooth abnormalities, and hearing loss (due to ossicle involvement).
Treatment involves bisphosphonates (such as alendronate), which prevent the loss of bone density and help reduce the risk for fracture.
Find Osteogenesis Imperfecta and other Collagen Related Disorders among Pixorize's visual mnemonics for the USMLE Step 1 and NBME Shelf Exams.