Osteogenesis Imperfecta

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Osteogenesis Imperfecta (OI) also called: Brittle bone disease, is a genetic disorder in which bones break easily. Sometimes the bones break for no known reason. OI can also cause weak muscles, brittle teeth, a curved spine and hearing loss. The cause is a gene defect that affects how you make collagen, a protein that helps make bones strong. Usually you inherit the faulty gene from a parent. Sometimes, it is due to a mutation, a random gene change.

OI can range from mild to severe and symptoms vary from person to person. A person may have just a few or as many as several hundred fractures in a lifetime. There is no cure, but you can manage symptoms. Treatments include exercise, pain medicine, physical therapy, wheelchairs, braces and surgery.

There are four recognized types of OI, which vary in severity and characteristics.

The following are the most common symptoms. However, each individual may experience symptoms differently. Although symptoms may vary, generally they are used to classify the four forms of OI, each of which represents the severity of the condition.

According to the Osteoporosis and Related Bone Diseases National Resource Center, part of the National Institutes of Health, the types of OI and their symptoms include the following:

. . . Type I:

  • most common
  • bones fracture easily
  • can usually be traced through the family
  • near normal stature or slightly shorter
  • the normally white area of the eye ball is blue
  • dental problems
  • hearing loss beginning in the early 20s and 30s
  • most fractures occur before puberty; occasionally women will have fractures after menopause
  • triangular face
  • tendency toward spinal curvatures
. . . Type II:
  • newborns severely affected; frequently fatal
  • usually resulting from a new gene mutation
  • very small stature with extremely small chest and under developed lungs
. . . Type III:
  • tend to be isolated family incidents
  • very small in stature - some only 3 feet tall
  • fractures at birth very common
  • x-ray may reveal healing of in utero fractures
  • severe early hearing loss
  • loose joints and poor muscle development in arms and legs
  • barrel-shaped rib cage
. . . Type IV:
  • can frequently be traced through the family
  • bones fracture easily - most before puberty
  • normal or near normal colored sclera
  • problems with teeth - more than Type I
  • spinal curvatures
  • loose joints
The symptoms of osteogenesis imperfecta may resemble other medical conditions or problems.

OI is caused by genetic defects that affect the body's ability to make strong bones. Collagen is the major protein of the body's connective tissue and can be likened to the framework around which a building is constructed. In classical OI, a person has either too little type I collagen, or a poor quality of type I collagen due to a mutation in one of the type I collagen genes. In recessive OI, mutations in other genes interfere with collagen production. The result in all cases is weak bones that break easily.

While there is no cure for osteogenesis imperfecta, there are opportunities to improve the child's quality of life. Treatment must be individualized and depends on the severity of the disease and the age of the patient. Care is provided by a team of health-care professionals, including several types of doctors, a physical therapist, a nurse-clinician and a social worker.

. . . Nonsurgical Treatment
In most cases, treatment will be nonsurgical.

Medical bisphosphonates, given to the child either by mouth or intravenously, slow down bone resorption. In children with more-severe OI, bisphosphonate treatment often decreases the number of fractures and bone pain. These medications must be administered by properly trained doctors and require close monitoring.

Casting, bracing, or splinting of fractures is necessary to immobilize the bone so that healing can occur. Movement and weight bearing are encouraged as soon as possible after fractures to increase mobility and decrease the risk of future fractures.

. . . Precautions
Here are some tips developed by the Osteogenesis Imperfecta Foundation for dealing with children with osteogenesis imperfecta.
  • Don't be afraid to touch or hold an infant with osteogenesis imperfecta, but be careful. Never lift a child with osteogenesis imperfecta by holding him or her under the armpits. Do not pull on arms or legs or lift the legs by the ankles to change a diaper. To lift an infant with osteogenesis imperfecta, spread your fingers apart and put one hand between the legs and under the buttocks; place the other hand behind the shoulders, neck and head.
  • Do not feel guilty if a fracture does occur. Children must develop and fractures will occur no matter how careful you are.
  • Select an infant car seat that reclines. It should be easy to place or remove the child in the seat. Consider padding the seat with foam and using a layer of foam between the child and the harness.
  • Be sure your stroller is large enough to accommodate casts. Don't use a sling or umbrella-type stroller.
  • Follow your doctor's instructions carefully, especially with regard to cast care and mobility exercises. Swimming and walking are often recommended as safe exercises.
  • Avoid activities such as smoking, drinking and taking steroids because they have a negative impact on bone density.
  • Increasing awareness of child abuse and a lack of awareness about osteogenesis imperfecta may lead to inaccurate conclusions about a family situation. Always have a letter from your family doctor and a copy of your child's medical records handy.
. . . Surgical Treatment
Repeated fractures of the same bone, deformity, or fractures that do not heal properly are all indications that surgery may be necessary. Metal rods may be inserted in the long bones of the arms and legs. Some rods are a fixed length and must be replaced as the child grows. Other rods are designed like telescopes so they can expand along with the bone growth. However, other complications may occur with telescoping rods. Do not hesitate to ask your orthopaedic surgeon about both options.

In many children with osteogenesis imperfecta, the number of times their bones fracture decreases significantly as they mature. However, osteogenesis imperfecta may become active again after menopause in women or after the age of 60 years in men.

Scoliosis, or curvature of the spine, is a problem for many children with osteogenesis imperfecta. Bracing is the usual treatment for scoliosis, but it is often ineffective in children with osteogenesis imperfecta. Spinal fusion, in which the vertebrae are realigned and fused together, may be recommended to prevent excessive curvature.


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