Hospital in Jaipur successfully treats rare genetic disorder
Jaipur, Sept. 29 -- A child with repeated bone fractures was recently diagnosed with the rare genetic disorder Osteogenesis Imperfecta at JK Lon Hospital, where timely diagnosis and affordable treatment have now made managing such rare diseases easier.
Dr Priyanshu Mathur, Head of the Department of Medical Genetics and Senior Pediatrician at JK Lon Hospital, explained that Osteogenesis Imperfecta is extremely rare, affecting approximately one in every 15,000 to 20,000 children worldwide.
Recently, a patient suffering from repeated fractures of leg bones arrived at JK Lon Hospital. After thorough examination at the hospital, doctors diagnosed the child with Osteogenesis Imperfecta, Dr. Mathur said
According to medical experts, the primary cause of Osteogenesis Imperfecta is a deficiency or defect in collagen protein, which provides strength to bones. Any abnormality in collagen makes bones brittle and fragile.
The disease is entirely genetic, passed from parents to children. In some cases, symptoms are visible at birth, while in others, they appear as the child grows.
Mathur shared that JK Lon Hospital has treated eight patients with Osteogenesis Imperfecta so far....
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