How can osteogenesis imperfecta be avoided

Severe backache and musculoskeletal pain can be severe enough to disrupt daily activity. Immobility increases the risk of venous thromboembolism. Impaired wound healing, increased risk of blood loss during delivery, and increased prevalence of cardiac abnormalities and congenital heart disease contribute to complications associated with OI [ 6 ].

It is necessary to provide genetic, maternal-fetal medicine, and neonatal consultation to assess and discuss the fetal risk of OI, implications of OI on pregnancy and delivery, and risk to the fetus. She was wheelchair-bound. Her medical history revealed several fractures as a neonate and in childhood, leading to a diagnosis of OI based on clinical presentation and examination.

Confirmatory tests were not available in the public health sector. She has been in and out of the hospital since childhood because of these fractures, with various treatments having been received, including plaster of Paris casts and traction.

She can, however, stand with support and climb onto and off the wheelchair without assistance. She was abnormally short compared with her siblings and peers. She had normal pubertal development, and her menstrual cycle was very regular.

Her boyfriend, who was married and had five other children, contributed little to her welfare. She was a vendor receiving some financial support from her siblings. The result of cervical cancer screening with visual inspection with acetic acid and cervicography done in was negative. She had no family history suggestive of OI.

She is educated to form 4 ordinary level. The results of antenatal screening for human immunodeficiency virus and syphilis were negative. Her sclera was white. She had poor dentition with grayish discoloration. She had short limbs, with the right lower limb shorter than the left, and deformities were noted on both thighs. She did not have scoliosis or kyphosis. Her chest was barrel-shaped with good air entry bilaterally.

She had normal blood pressure and a normal cardiovascular system examination finding. Her abdominal examination revealed central obesity and a bulky uterus of week-size gestation. A multidisciplinary team was involved in her management. The team included obstetricians, a maternal-fetal medicine specialist, pediatricians, anesthetists, a psychologist, and midwives.

Ultrasound performed by a maternal-fetal medicine specialist showed a fetus with a bowed femur and short humerus. No fractures were noted. The fetal skull was easily deformable. No other malformations were noted. The conclusion was that the fetus had OI, nonsevere disease. Pediatricians counseled the patient about the fetal condition and the possibility of preterm delivery and its accompanying complications. With the limitations of the neonatal unit, the conclusion was an unfavorable prognosis for the neonatal outcome.

The patient, however, was willing to continue with the pregnancy. She had an uneventful antenatal period, with serial ultrasound showing satisfactory growth. Contraceptive counseling was provided, and she opted for tubal ligation, which was done at the time of cesarean section. The operation was done with the patient under general anesthesia, and a smooth intubation was done with care so as not to cause cervical spinal fracture.

Bilateral tubal ligation was performed. The baby was admitted to the neonatal unit. She developed a chest infection, which was successfully treated with intravenous antibiotics. The mother was managed for a paralytic ileus on day 2 after surgery. She was discharged on day 7. She developed a superficial surgical site infection, which was managed with daily dressings and oral antibiotics on an outpatient basis.

The child is currently seen in follow-up by her pediatrician for OI. She has blue sclera. Initial neonatal x-rays had not revealed any fractures. Bone deformities were also noted. She can now walk with support. The rest of her developmental milestones are normal.

No other fractures have been reported since they were originally noted. The parents are not able to afford genetic tests. OI is a rare condition with sparse reports from Africa and also in black populations from other regions [ 7 ]. However, people with OI, because of short stature, curvature of the spine, past vertebral fractures, or the presence of metal rodding, may not be able to get an accurate reading. There is no cure for osteoporosis. However, medications are available to prevent bone loss, increase bone mass, and treat the disease.

Women and men who have OI seem to be using these medications successfully. Consult with your doctor to determine which medication is right for you. Many of these medications require long-term use.

This publication contains information about medications used to treat the health condition discussed here. When this publication was developed, we included the most up-to-date accurate information available. Occasionally, new information on medication is released.

Would you like to order publications on bone disorders to be mailed to you? Visit our online order form. What is osteogenesis imperfecta? What is osteoporosis? Risk factors for developing osteoporosis include: Thinness or small frame.

Family history of the disease. Being postmenopausal and particularly having had early menopause. Orthopedic treatment. May include bracing and splinting. Surgery may also be needed. Metal rods are inserted to help hold in place stabilize and prevent deformities of long bones. Dental procedures. Treatments, including capping teeth, braces, and surgery may be needed. Physical and occupational therapy. Both are very important in babies and children with OI. Assistive devices. Wheelchairs and other custom-made equipment may be needed as babies get older.

Complications may affect most body systems in a baby or child with OI. The risk of developing complications depends on the type and severity of your baby's OI. Complications may include the following:. 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.

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 pain. Fractures and deformities can be very painful. Talk with your baby's healthcare provider about pain medicine or other ways to lessen pain. Dealing with challenges. As your child gets older, he or she may have emotional and physical challenges. Regular medical and dental checkups. Your baby will need regular checkups and tests.

These include eye and dental exams. Type III osteogenesis imperfecta — people with type III OI usually will be shorter than their peers, and may have severe bone deformities, breathing problems which can be life-threatening , brittle teeth, a curved spine, ribcage deformities, and other problems.

Type IV osteogenesis imperfecta — people with type IV OI can have mild to serious bone deformities, short stature, frequent fractures which may lessen after puberty , and a curved spine. Besides a family history of OI, doctors look for frequent or unexplained bone fractures, dental problems, blue sclera the white part of the eye , short stature, and other symptoms as signs that a child has OI. In severe cases, prenatal testing such as an ultrasound can detect fractures and bone deformities before a baby is born.

There's no cure for osteogenesis imperfecta. Treatment is based on a child's specific symptoms, and can include physical therapy and mobility aides, occupational therapy , medicine, and surgery.

The goal is to prevent fractures, treat them properly when they do happen, preserve mobility and independence, and strengthen bones and muscles.

The treatment team might include a primary care doctor, an orthopedist, rehabilitation specialists, an endocrinologist, a geneticist, a neurologist, and a pulmonologist. Preventing bone fractures is key for people with OI. They can lower their risk of broken bones by:. When bones do break, it's important to treat them right away with casts, splints, and braces.

Orthopedists doctors who specialize in treating bone problems might recommend using lightweight versions of these devices that allow some movement during healing. Physical therapy PT can be helpful for many kids with OI. It can build muscle strength, which helps maintain function, promote aerobic fitness, and improve breathing.