Osteogenesis Impacts Bone Strength

Osteogenesis imperfecta is a genetic disorder that impacts how the body produces collagen, a protein that helps strengthen bones. OI can be a mild bone disorder, resulting in a few fractures in a child’s lifetime. In more severe cases, the disease can cause hundreds of fractures and even impact other organ systems.

At Children's Healthcare of Atlanta, we’re dedicated to treating children with OI. Our team will teach our children living with OI, as well as parents, what they should expect and how to prepare.

Type I collagen disorder

OI affects how a child’s body produces Type I collagen, the protein that forms bone structure. It is caused by either a lack of collagen or the collagen is abnormally formed. Since Type I collagen is also located in teeth, the whites of the eyes, ears, skin, ligaments, heart valves and blood vessels, the disease can also impact other organ systems.

OI is an inherited disorder. Typically, it’s passed down through families, but not always. Therefore, it is possible for your child to have OI without other family members being affected. Approximately 1 out of every 20,000 live births result in Osteogenesis Imperfecta.

There are more than 300 known genetic mutations associated with the disorder and some forms are more severe than others.

Types of osteogenesis imperfecta

Type 1 OI: Mild

This is the most common and mildest type of OI, and is likely to be inherited. Children with Mild OI can have blue sclera – meaning the whites of the child’s eyes are blue — and teeth can also be affected (Dentinogenesis Imperfecta). Fractures do not usually occur until preschool when the child is walking.

Type II OI: Most Severe

The collagen is extremely abnormal with this type of OI, causing the bones to be extremely weak. Fractures to the skull and ribs can occur while the baby is still in utero, causing respiratory failure and/or stroke. While the disorder was previously considered fatal, children have a much better outlook thanks to advances in medical treatment.

Type III OI: Severe

Children with Severe OI often have fractures when they are born and are frequently short with a deformed spine. In the past, this condition decreased life expectancy, often because of respiratory illness, but with medical advances they are living longer, richer lives. Medications, known as bisphosphonates, make bones stronger and can be started as early as infancy.

Type IV OI: Moderate to Severe

Children with Type IV OI are usually short in stature with teeth affected by the disorder. Fractures and crooked bones are common. Pediatric orthopaedic surgery is often required to protect the bone against future fractures and straighten out crooked bones. Medications, known as bisphosphonates, make bones stronger and can be started as early as infancy.

Osteogenesis Imperfecta treatment

There is no known cure for Osteogenesis Imperfecta. Current treatments focus on minimizing pain, fractures and bony deformities. Our goal is to help OI children live better, more fulfilling lives. Treatments range from physical therapy, bracing, medications and occasionally surgery.

Osteogenesis Imperfecta Pre and Post

Our Unique Approach

A diagnosis can be overwhelming. Children’s Healthcare of Atlanta is here to support your child and family every step of the way. We’ll help you understand each step and work with your schedule, including same day appointments. Children’s has resources to help your children live with OI, minimize fractures and find a good balance.

The focus is on maximizing function and minimizing the pain associated with OI. We deliver on these goals by decreasing the number of fractures a child with OI endures.

Strategies to improve bone health include (but are not limited to):

  • Encouragement of weight-bearing activities
  • Use of braces, when necessary
  • Exercise and/or physical therapy
  • Taking adequate levels of daily calcium and vitamin D
  • When appropriate, medications to make bones stronger (for example, bisphosphonates)
  • When appropriate, surgery to implant rods to straighten bones and protect them from future fractures

Care phases

Typically, there are two care phases for OI – the maintenance phase in which our team evaluates your child’s bones and develops a treatment plan, and the acute fracture phase in which your child has suffered from a broken bone.

Maintenance Phase

All efforts focus on strengthening the bones as much as possible.

Physical Therapy

For children with moderate to severe OI, we typically start physical therapy around the age of 3 to 6 months. Therapy can either be “land therapy” or “aqua therapy” depending on your and your doctor’s preference. Keep in mind that pools are limited in the greater Atlanta area, but children with OI have high priority. Other creative options include dance/ballet and/or martial arts.

Physical therapy is imperative for a young child with OI. Children learn balance skills to prevent falls, and gain muscle strength and endurance. For an older child, there may be anxieties about walking and running. Working with an experienced therapist will get your child moving and keep them moving. Once you have a prescription from your provider, we’ll help you figure out therapy options.

Learn more about physical therapy

Braces

Your provider may recommend braces for your child’s ankles. Many children with OI have very flexible joints and flat feet, and braces provide additional support for walking and running. Custom made braces can be expensive.

An SMO (supra-malleolar orthosis) is the most common brace prescribed. It provides support for the ankle and can fit into most sneakers. The brace comes up to just above the balls in the ankle joint (known as malleoli). If your child benefits from an SMO when he or she is younger, they will likely transition to a shoe insert as they get older.

Acute Fracture Phase

We take steps to develop the right solution and treatment plan when your child has suffered a broken bone. Below are options to address fractures in children with OI.

Medical Treatment (Bisphosphonates)

Bisphosphonates have revolutionized care for children with OI, and have allowed previously wheelchair-dependent kids to walk. Children previously in chronic pain now live with less pain and less fractures.

Bisphosphonates are medications that can be used to strengthen bones. In a process known as turnover, your body constantly breaks down old bone to make new bone. They medicine inhibits bone turnover to improve bone density, which can benefit children with more severe forms of OI.

Bisphosphonates, which come in either oral or IV forms, are considered if your child has:

  • Obvious crookedness to the bone
  • Multiple long bone fractures (femurs, tibias, humerus, etc.) in one year
  • Any pathologic back fracture
  • These medications are not without risk, and must be discussed with your doctor before starting treatment. Typically, endocrinologists prescribe bisphosphonates. If the decision is made to consider bisphosphonates, you will be referred to an endocrinologist specially trained in treating bone.

Surgical Treatment (Rodding surgeries)

For children with the more severe types of OI, where the bones are too crooked to stand on, your doctor may recommend placing rods in all four portions of the lower limbs.

Surgery is usually performed when your child is pulling up to stand (which averages 18 to 24 months in the more moderate to severe forms). The rods most commonly used are called Fassier-Duval rods.

The surgery is designed to not only straighten, but to also protect the bones from bending and breaking in the future. Positive results are not guaranteed, and surgery should not be considered for every child with OI. In the example above, the child is now able to walk and rarely suffers fractures that previously slowed him down.

What to Expect

Living with Osteogenesis Imperfecta can be a balancing act. At Children’s Healthcare of Atlanta, we are here to answer questions and help your child find the right mix for a healthy lifestyle.

What to expect when your child has Osteogenesis Imperfecta

There are numerous types of OI, from mild to severe. While no child’s situation is the same, there are ailments common to a collagen disorder in the body. These can include:

Scoliosis

Curving of the spine can occur when the bones are weak. In addition to scoliosis, fractures and loosening of the ligaments surrounding the spine can also occur.

Skull abnormalities

In more severe types of OI, the skull is weakened. As a result, these children (and adults) sometimes have unusually large heads. The faces can appear flattened and triangular.

Short stature

There is a direct relationship between the severity of OI and a child’s height. Scoliosis of the spine can make the trunk shorter as the spine twists. Curving of the bones and fractures of the growth areas of bone can severely restrict height.

Dentinogenesis imperfecta

Type I collagen found in teeth is called dentin. If the dentin becomes abnormal, teeth become weaker and are prone to rapid wear, breakage and tooth loss. Approximately 30% of all children with OI have significant dental issues. Teeth may appear brown as the enamel wears away. We recommend that all children with OI be screened by a pediatric dentist either when the first tooth erupts or by age 1.

Blue sclera

A child’s eye can appear translucent when there is a collagen deficiency in the cornea. As the eye becomes more translucent, the underlying pigments and blood vessels are revealed, causing the whites of the eyes appear blue.

Children (and adults) with OI are at higher risk for cataracts, glaucoma, and retinal detachment. Frequent appointments with the eye doctor (ophthalmologist) can prevent problems.

Hearing loss

Small fractures of the ear bones can lead to hearing loss. Almost half of adults with OI have some type of hearing loss. We recommend children are screened by a licensed pediatric audiologist at the age of 3 and 10.

Heart and blood vessel problems

OI can cause expansion of the aorta, brain blood vessels, and heart chambers. During surgery, children and adults with OI have increased risk of bleeding.

Fractures in children with Osteogenesis Imperfecta

Minimal cast time
For a child with OI, the treatment for a broken bone is very different when compared to other children. The key is to remember your child will have stronger bones when they are more active. If your child needs a cast, we’ll try to minimize the ‘in cast’ time as much as possible so the bone will not become too fragile.

Walking casts
To minimize the time your child is not walking, we typically use walking casts and walking braces (when applicable) if your child is comfortable with this type of treatment.

Cast kits
For children with more moderate to severe forms of OI, we can provide a “cast kit” for a minimal fee. This includes user-friendly casting material (known as soft cast), cast padding and a stockingnette. This cast can be made at home and provides your child enough comfort so that a trip the Emergency Department isn’t required.

What to do if your child has a broken bone
Visit your child's doctor to get medical attention if your child has broken a bone and you aren’t sure whether a visit to the Emergency Department is required.