Osteogenesis imperfecta (OI) is an uncommon (about 1/10,000 worldwide) inherited disorder caused by mutations in any of more than a dozen genes. Multiple types of OI, extreme range of severity, changes across the lifespan, in addition to dominant and recessive patterns of inheritance contribute to the complexity of OI. It is caused due to the mutations in type I collagen genes or in the genes involved in formation of collagen or bone. This contributes to the wide range of clinical features, beyond fragile bones, that are seen in OI patients.
We have more than 125 children with OI under our care at Christian Medical College, Vellore. In addition we receive 3 new patients per month for treatment under us. These have included atypical forms of OI such as type V, type X. A parallel study funded by ICMR is ongoing under us to perform genetic testing on patients with clinical manifestation of OI.