Pediatric Bone Disorders

Osteogenesis Imperfecta, Osteoporosis, and Others

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Duke Health pediatric endocrinologists provide expert care to children with osteogenesis imperfecta, steroid-induced osteoporosis, juvenile idiopathic osteoporosis, and rickets. These and other bone disorders may be caused by many factors, such as a genetic condition, nutritional deficiency, or treatments for coexisting chronic illness. Often, children show very few or nonspecific symptoms such as back pain or pain with walking. We take a personalized approach to evaluating and managing your child’s condition, including sending targeted genetic testing, laboratory evaluation, and radiologic imaging when needed. 

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Bone Disorders We Treat

Osteogenesis Imperfecta (OI) 
Also known as brittle bone disease, OI is a rare genetic disorder that occurs when the body is unable to make one type of collagen. This causes bones to break more easily, sometimes without any obvious cause. Often, small fractures will occur during birth or throughout your child’s first year of life. They may also have changes in their eyes and teeth.

Steroid-Induced Osteoporosis 
Steroid-induced osteoporosis is the most common form of osteoporosis in children and occurs after long-term use of high-dose steroids to treat chronic conditions like muscular dystrophy or asthma. High doses of steroids can cause bone thinning, which increases the risk of fractures. Usually, the spine is most affected by steroid-induced osteoporosis.

Juvenile Idiopathic Osteoporosis
Juvenile osteoporosis can have many different causes, including a genetic condition or long-term use of certain medications. When the cause of juvenile osteoporosis is unknown, it is called juvenile idiopathic osteoporosis (JIO). This is very rare and typically occurs right before puberty. Signs of JIO include bone fractures that cause your child to limp or to experience pain in the feet, lower back, or hips.

Rickets
Rickets describes softened bones that lack certain minerals. It results from decreased levels of calcium and/or phosphorus. The most common cause of rickets in children is a prolonged deficiency in vitamin D. In rare cases, rickets can be caused by a genetic disorder that causes low phosphorus. The first signs of rickets are usually bowing of the legs. It is more common in infants who are breastfed and those with darker skin.

Cancer-Related Bone Damage
Sometimes cancer treatments or the spread of cancer can impact bone health.

Our Locations

Duke Health offers locations throughout the Triangle. Find one near you.

Tests

Duke pediatric endocrinologists will examine your child and evaluate their physical growth and health history. They may recommend tests to diagnose your child's condition.

Physical Exam

During a physical exam, your child’s doctor will look for physical signs of bone disease. For instance, children with OI often have discoloration in the eyes and teeth, shorter-than-average arms and legs, or they may have difficulty walking. In steroid-induced osteoporosis, weight gain is common, especially around the midriff. Swelling in the arms and legs, bumps on the ribs, and bowing of the legs are physical signs their doctor may look for if rickets is suspected.

Blood Tests

Blood tests may be requested for genetic testing, to check hormone levels, or to check for vitamin and mineral deficiencies.

Imaging

X-rays of the spine check for compression fractures. A bone density scan, also called dual-energy X-ray absorptiometry (DXA), may be done on the femur, spine, and occasionally the upper extremities to check for bone mineral loss.

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Treatments

Your child’s doctor will create an individualized treatment plan to improve their health and correct or manage their bone disease.

Medication Adjustments

If your child’s bone disease is caused by a medication, efforts will be made to reduce dosing or replace it with a different medication if possible. The goal is to minimize the effects of the medication on bone health while still managing your child’s underlying condition.

Correcting Nutritional Deficiencies

Your child’s doctor will aim to correct vitamin or mineral deficiencies causing their bone disease. For instance, vitamin D, calcium, or phosphorus supplements may be prescribed to correct the deficiency.

Bisphosphonate Therapy

Osteogenesis imperfecta is commonly managed with bisphosphonates, given orally or by infusion. Bisphosphonates work by impairing how well your body breaks down bone. This enhances new bone formation and leads to stronger bone.

Why Choose Duke

Specialized Care for Osteogenesis Imperfecta
We are one of the few centers in the Southeast offering specialized care for children with osteogenesis imperfecta. We can offer a multidisciplinary approach to care, with providers in multiple medical specialties including genetics, orthopedics, nephrology, rheumatology, and physical therapy. We have full-service laboratory and radiologic facilities, plus an infusion center with staff members who are experienced in the delivery of bone medications.

Home Health Options
Duke pediatric endocrinology offers a home health care program to eligible children so they can be treated at home where they’re most comfortable. We can make this service available after ensuring that treatment options are well-tolerated and effective. 

Consistently Ranked Among the Nation’s Best Hospitals

Duke University Hospital is proud of our team and the exceptional care they provide. They are why we are once again recognized as the best hospital in North Carolina, and nationally ranked in 11 adult and 10 pediatric specialties by U.S. News & World Report for 2024–2025.

This page was medically reviewed on 02/16/2024 by