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Osteogenesis Imperfecta in Children

What is osteogenesis imperfecta?

Osteogenesis imperfecta (OI) is an inherited disorder of the tissue that holds the body together (connective tissue). It is present at birth (congenital). A child born with OI may have signs and symptoms that range from mild to severe. He or she may have soft bones that break (fracture) easily, bones that are not formed normally, and other problems

There are at least 8 different types of the disease. The types vary greatly, both within and between types. They are based on the type of inheritance (see below), and signs and symptoms, including findings on X-ray and other imaging tests. The types are as follows:

  • Type I. Mildest and most common type. About half of all affected children have this type. There are few fractures and deformities
  • Type II. Most severe type. A baby has very short arms and legs, a small chest, and soft skull. He or she may be born with fractured bones. He or she may also have a low birth weight and lungs that are not well developed. A baby with type II OI usually dies within weeks of birth
  • Type III. Most severe type in babies who do not die as newborns. At birth, a baby may have slightly shorter arms and legs than normal, arm, leg, and rib fractures, a larger than normal head, a triangle-shaped face, a deformed chest and spine, and breathing and swallowing problems. These symptoms are different in each baby.
  • Type IV. Symptoms are between mild and severe (moderate). A baby with type IV may be diagnosed at birth. He or she may not have any fractures until crawling or walking. The bones of the arms and legs may not be straight (bowed). He or she may not grow normally.
  • Type V. Similar to type IV. Symptoms may be moderate to severe. It is common to have enlarged thickened areas (hypertrophic calluses) in the areas where large bones are fractured
  • Type VI. Very rare. Symptoms are moderate. Similar to type IV.
  • Type VII. May be like type IV or like type II. Shorter than normal height and upper arm and thighbones are common. 
  • Type VIII. Similar to types II and III. Very soft bones and severe growth problems.

What causes osteogenesis imperfecta?

OI is passed on through the genes (inherited). The different types are passed on in different ways. The gene may be inherited from one or both parents. Or, the gene can be passed on from a unexplained change (spontaneous mutation) of a gene.

Most babies with OI have a defect of one of two genes. These genes help in forming collagen. Collagen connects and supports the whole body (connective tissue), including the bones. Because of the defect there is not enough collagen or the collagen is abnormal.

What are the symptoms of osteogenesis imperfecta?

The symptoms of OI vary greatly within and between types. Symptoms of OI include:

  • Easily broken (fractured) bones
  • Bone deformities, such as bowing of the legs
  • Discoloration of the white of the eye (sclera), may be blue or gray in color
  • A barrel-shaped chest
  • A curved spine
  • A triangular-shaped face
  • Loose joints
  • Muscle weakness
  • Skin that easily bruises
  • Hearing loss in early adulthood
  • Soft, discolored teeth 

The symptoms of osteogenesis imperfecta may look like other medical conditions. Always consult your child's health care provider for a diagnosis.

How is osteogenesis imperfecta diagnosed?

Your baby's healthcare provider will ask questions about your baby's medical history, your family and pregnancy history, and your baby's current symptoms. He or she will examine your baby, looking for signs and symptoms of OI. The milder forms of OI may be difficult to diagnose in a baby.

Your baby's healthcare provider may refer you to specialists with experience in diagnosing and treating OI. For example, your baby may be referred to a specialist in genetic conditions (geneticist) or in bone disorders (orthopedist).

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, saliva, and skin may be checked. The tests may include gene testing.
  • Dual Energy X-ray Absorptiometry scan (DXA or DEXA scan). A scan of the bones to check for softening.
  • Bone biopsy. A sample of the hipbone is checked. This test requires sleep medication (general anesthesia).

How is osteogenesis imperfecta treated?

Your child’s healthcare provider will figure out the best treatment based on:

  • How old your child is
  • His or her overall health and medical history
  • How sick he or she is
  • How well your child can handle specific medicines, procedures, or therapies
  • How long the condition is expected to last
  • Your opinion or preference

The main goal of treatment is to prevent deformities and fractures. And, once your child gets older, to allow him or her to function as independently as possible. Treatments for preventing or correcting symptoms may include:

  • Bisphosphonate medicines. These are medicines that help to strengthen bones and prevent fractures. They may be used in most types of OI. They may be given by mouth (oral) or into a vein (intravenous or IV)
  • Care of fractures. The lightest possible materials are used to cast fractured bones. To prevent further problems, it is recommended that a child begin moving or using the affected area as soon as possible.
  • Orthopedic treatment. May include bracing and splinting. Surgery may also be needed. For example:
  • Rodding. 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.

What are the complications of osteogenesis imperfecta?

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. They may include the following:

  • Respiratory infections, such as pneumonia
  • Heart problems such as poor heart valve function
  • Kidney stones
  • Joint problems
  • Hearing loss
  • Eye conditions and vision loss

How is osteogenesis imperfecta managed?

OI is a life-long condition. Managing it may include the following:

  • Avoiding fractures. If your baby has moderate 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 and 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.
  • Weight management. When your child gets older he or she may gain weight because of the decreased physical activity.

When should I call my child's healthcare provider?

Call your baby's healthcare provider if your baby:

  • Is injured
  • Has changes in his or her behavior that may mean an injury or other problem. For example, your baby may be fussy or irritable
  • Has signs of a cold or flu, like a fever or cough

Key points about osteogenesis imperfecta

  • Osteogenesis imperfecta (OI) is an inherited (genetic) disorder of the tissue that holds the body together (connective tissue). 
  • Symptoms of OI include easily fractured bones, bone deformities, and discoloration of the whites of the eye (sclera).
  • The main goal of treatment is to prevent deformities and fractures.

Next steps

Tips to help you get the most from a visit to your healthcare provider:
  • Before your visit, write down questions you want answered.
  • Bring someone with you to help you ask questions and remember what your provider tells you.
  • At the visit, write down the names of new medicines, treatments, or tests, and any new instructions your provider gives you.
  • If you have a follow-up appointment, write down the date, time, and purpose for that visit.
  • Know how you can contact your provider if you have questions.
Online Medical Reviewer: Fraser, Marianne, MSN, RN
Online Medical Reviewer: Marcellin, Lindsey, MD
Date Last Reviewed: 5/6/2015
© 2000-2015 The StayWell Company, LLC. 780 Township Line Road, Yardley, PA 19067. All rights reserved. This information is not intended as a substitute for professional medical care. Always follow your healthcare professional's instructions.
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