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Genetic and Metabolic :
Osteogenesis Imperfecta

OI, sometimes known as Brittle Bone Disease or "Lobstein syndrome", is a genetic bone disorder. It is usually because of deficiency in the Type 1 collagen that results in deficient connective tissue.

For more details on OI, Medindia’s support group is the place you should be.


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1. Who or which specialist is the doctor that needs to be consulted in osteogenesis imperfecta?

A pediatrician needs to be consulted in order to confirm the presence of the disease.

2. What can be done to minimize the impact of the disease?

The baby needs to be protected to make sure that it does not frequently fall or get hit by hard objects. These could result in multiple fractures.

3. Is there any way to know if I have the trait of this condition that can be transmitted to my offspring?

Most hospitals in metros offer genetic counselling before the delivery. Some tests can also indicate if the fetus has any genetic abnormalities. Besides these tests, there is no way to be certain that the fetus will be born with osteogenesis imperfecta.

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