AI Article Synopsis

  • Osteogenesis imperfecta is a genetic disorder that leads to fragile bones that break easily due to collagen production issues, classified into four types from mild to severe.
  • The most serious forms, Type III and IV, often survive past infancy and require complex management strategies, including surgery, physiotherapy, and medications like bisphosphonates.
  • A case of a nine-year-old boy who experienced bone deformities and fractures highlights the need for ongoing treatment to improve his quality of life, despite the condition being incurable.

Article Abstract

Osteogenesis imperfecta is an inherited disorder that results in fragile bones that break easily. Gene defects are responsible for the disease. Collagen, a protein that helps strengthen bones, is produced by these genes. The disease can be classified into four types ranging from mild to lethal. Type III or type IV is the most severe forms that survive the neonatal period. In osteogenesis imperfecta strengthening the bone requires correcting the genetic mutations that cause the disorder. Physical rehabilitation, surgical procedures, and clinical management of osteogenesis imperfecta include the use of drugs such as bisphosphonates and recombinant human growth hormone. A nine-year-old male child came to the radiology department with a clinical history of bony deformities of both legs since the age of six years. The child was normal until the age of six years. Then, later, he had a right femur fracture. Surgery was done with a rod inserted in his femur, which was later removed, causing bending of his tibia and fibula. Treatment can improve the quality of life and manage symptoms, but the condition cannot be cured. As part of the treatment, bone-strengthening medications, physiotherapy, and surgery may be required.

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Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC11525948PMC
http://dx.doi.org/10.7759/cureus.70609DOI Listing

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