Challenges In Osteogenesis Imperfecta Care: Breaking The Barrier For A Promising Future•

Anisuddin Bhatti, Saddam Mazar Baloch

Abstract

The osteogenesis imperfecta (OI) remains one of the most challenging inherited skeletal disorders that manifests with recurrent fractures on minor stress, progressive deformities, chronic pain, and functional disabilities. The affected person can also have variable short stature, scoliosis, and extra-skeletal manifestations including blue sclera, sensory hearing loss, and dentinogenesis imperfecta.1-3 In Pakistan, OI prevalence is similar to that of global estimates; about 1 in 10,000 to 20,000 births. The reliable national data are lacking due to frequent under-diagnosis or confusing with conditions like rickets and child abuse.4 In contrast, high-income countries have centralized registries with the availability of genetic testing and multidisciplinary teams to manage the patients and improve their quality of life………..