What is Osteogenesis Imperfecta in Children?

Osteogenesis imperfecta is also known as brittle bone disease. In this disease, bone fracture with little trauma or without even any fall. This disease present since birth. It is a genetic disease. It can have a variety of grades of severity and presentation. It happens because type 1 collagen in bone does not form. 

What are the symptoms of Osteogenesis Imperfecta in a Child?

History of the fracture without or very little trauma in the very early age of life in infancy.

Other symptoms are blue sclera, deformed limbs, hearing loss, teeth problems, and short height.

What Are the Types of Osteogenesis Imperfecta?

Osteogenesis imperfecta is of four main variety. 

Type 1 is the most common and mildest one. 

Type 2 is most severe, do not survive.

Type 3 child will have multiple deformities and can have hearing loss.

Type 4 severity is between type 1 and type 3. 

How is Osteogenesis Imperfecta Diagnosed in a Child?

Diagnosis is based on the history and physical exam of a child. X-ray is required for confirmation of multiple fractures and deformities. Genetic analysis is required for prognosis and research purposes. 

How is Osteogenesis Imperfecta Treated in a Child?

No definite treatment for osteogenesis imperfecta in children. Our treatment plan is to prevent fracture & correction of deformity and prevention of refracture by intramedullary implant.

Except bisphosphonate, no other medicine is so much useful. This medicine is used to decrease the osteoclastic activity, so the frequency of fracture can be decreased. It is given by intravenous rout.

Orthotics aids is an essential part of treatment so recurrence of fracture can be decreased. It helps in protecting the extremity from fracture.  

Surgery is required to correct the deformity. Most of the time, we use a rod inside a long bone. Is telescoping rod so that with an increase in height, this rod also increases in length because one-rod slide over another.   

Impairment & Disability: 

These children can never be active as normal children, so they need the protection of limb by using orthotics. It is advisable to avoid contact sport and Strenuous activities. Type 2 OI can’t survive bit other variety can survive. If they got repeated fracture & deformity then permanent metal rod will be placed inside bone to prevent the recurrence of deformity. They need to be under strict follow-up under a pediatric orthopedic surgeon. These people should avoid using smoking, steroid; otherwise already weak bones will be weaker. 

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