Osteogenesis Imperfecta

Osteogenesis Imperfecta is a congenital disorder of bones that has varied types and presentations. Severity varies based on the type of the genetic mutation that causes this disorder.

Regardless of the type the genetic modification cause malformed and weak bones and in some cases malformed teeth. Bone bend and deform or break easily and heals in deformed position. This results in cosmetic deformity along with issues with walking , standing for the child.

The bend of the bone if significant can cause repeated fractures either due to poor handling by caretakers or when child tries to bear weight and stand up.

Fortunately for the milder variants there’s are medications to make bones stronger and surgery to straighten bent bones. This allows child with help of walking aids and/or splints to ambulate.

For the very severe variants unfortunately clinical breakthrough is still awaited.

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