Osteogenesis imperfecta (OI) is an inherited (genetic) bone disorder that is present at birth. It is also known as brittle bone disease. A child born with OI may have soft bones that break (fracture) easily, bones that are not formed normally, and other problems. Signs and symptoms may range from mild to severe. The main goal of treatment is to prevent deformities and fractures. OI is a lifelong condition.
Osteogenesis imperfecta (OI) is an inherited (genetic) bone disorder that is present at birth. It is also known as brittle bone disease. A child born with OI may have soft bones that break (fracture) easily, bones that are not formed normally, and other problems. Signs and symptoms may range from mild to severe.
There are at least 8 different types of the disease.
Most babies with OI have a defect of one of two genes which help in forming collagen. Collagen is a main part of connective tissue that connects and supports the whole body, including the bones. Because of the defect, there is not enough collagen. Or the collagen is abnormal.
Your baby's healthcare provider or the specialists may recommend the following diagnostic tests:X-rays. These may show many changes such as weak or deformed bones and fractures.
Lab tests. Blood & urine may be checked. The tests may also include gene testing.( confirmatory)
Dual Energy X-ray Absorptiometry scan (DXA scan). A scan of the bones to check for bone strength.
Bisphosphonate medicines. These are injectable medicines that help to strengthen bones, prevent fractures and reduce bone pain. They are be used in most types of OI. They are given by intravenous line into a vein.
Care of fractures. The lightest possible materials are used to cast fractured bones. To prevent further problems, it is recommended that a child begins moving or using the affected area as soon as possible.
Orthopaedic treatment. May include bracing an splinting. Surgery by inserting rods into the bones may also be needed to correct the deformities and to stabilise the fractures.
Physical and occupational therapy. Both are very important to develop muscle strength in babies and children with OI.
Assistive devices. Wheelchairs and other custom-made equipment may be needed as babies get older.
Children should have regular check-ups of the eyes, ears, teeth and the heart function.
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Avoiding fractures. If your baby has medium to severe OI, he or she needs to be picked up, diapered, and dressed very carefully. His or her position should be changed throughout the day. As your baby gets older, it will be important to help him or her avoid injuries. A physical or occupational therapist, as well as other healthcare providers, can help.
Dealing with pain. Fractures and deformities can be very painful. Talk with your baby's healthcare provider about pain medicine or other ways to lessen pain.
Avoiding infection. Your baby may be more likely to get colds and other respiratory infections. And he or she may get sicker with an infection. Make sure your baby has all of his vaccines (immunizations). During cold and flu season, stay away from crowds. Make sure that you wash your hands well. As your child gets older, teach him or her to do the same.
Dealing with challenges. As your child gets older, he or she may have emotional and physical challenges.
Regular medical and dental check-ups. Your baby will need regular check-ups and tests. These include eye and dental exams.
Weight management. When your child gets older he or she may gain weight because of the decreased physical activity.
(Dr. Vikas Basa, Consultant, Paediatric Orthopaedic Surgeon, Foot & Ankle Surgeon (Adults), Kokilaben Dhirubhai Ambani Hospital Mumbai)