In cases involving child abuse allegations, when osteogenesis imperfecta (OI) is a possibility, the basis for a diagnosis of OI begins with an examination and evaluation by a knowledgeable physician. Evaluation by a clinical geneticist who has experience with all types of OI--mild, moderate and severe--can be helpful. If a child has been diagnosed with OI, parents are encouraged to carry a letter from the primary care physician documenting the diagnosis.
Proper care for osteogenesis imperfecta can decrease the risk of additional fractures and promote development of maximum bone density.
The OI Foundation cannot become involved in individual cases, except to provide resource information. If you would like additional information, contact the Foundation to receive our packet on OI and child abuse.
DECIDE FOR YOURSELF ...
IS THIS AN ABUSED CHILD?
Unlikely or unsatisfactory
explanation of how the
in various stages
Evidence of bruising
Varied types of fractures
Bones that appear normal
A child is brought into the emergency room with a fractured leg. The parents are unable to explain how the leg fractured. X-rays reveal several other fractures in various stages of healing. The parents say they did not know about these fractures, and cannot explain what might have caused them. Hospital personnel call child welfare services to report a suspected case of child abuse. The child is taken away from the parents and placed in foster care.Scenes like this occur in emergency rooms every day. But in this case, the cause of the fractures is not child abuse. It is osteogenesis imperfecta, or OI. OI is a genetic disorder characterized by bones that break easily--often from little or no apparent cause. A person with OI may sustain just a few or as many as several hundred fractures in a lifetime.
What Is Osteogenesis Imperfecta?
Osteogenesis imperfecta is a genetic disorder of type 1 collagen--the protein "scaffolding" of bone and other connective tissues. People with OI have a faulty gene that instructs their bodies to make either too little type 1 collagen or poor quality type 1 collagen. The result is bones that break easily.
Most cases of OI are caused by a dominant genetic defect. Most children with OI inherit the disorder from a parent. However, approximately 25 percent of children with OI are born into a family with no history of the disorder. In these cases, the genetic defect occurred as a spontaneous mutation. Because the genetic defect is usually dominant--whether inherited from a parent or due to a spontaneous mutation--an affected person has a 50 percent chance of passing on the disorder to each of his or her children.
Four forms of osteogenesis imperfecta have been described, representing extreme variation from one individual to another. It is estimated that between 30,000 and 50,000 people have OI in the United States, or about 1/20,000.
Is it OI or Child Abuse?
When health care professionals, child welfare workers, and law enforcement officials see an unexplained fracture in a child who appears "normal" and whose bones appear otherwise normal on x-ray, they often suspect child abuse. Tragically, however, OI is often mistaken for child abuse.
When a child has osteogenesis imperfecta:
- Fractures may occur during ordinary activities, such as changing a diaper or burping the baby, or when an infant tries to crawl or pull to a stand. There may be no obvious indication that a fracture has occurred, other than the child crying or refusing to put weight on a limb.
- Different types of fractures may occur, including rib fractures and spiral fractures, with little or no apparent trauma.
- The child may bruise easily, again with little or no apparent cause.
- There may be no history of OI in the family, as some cases of OI occur due to a spontaneous genetic mutation. In other cases, a parent's case of mild OI may have gone undiagnosed.
- X-rays may reveal old fractures in various stages of healing that went undetected.
- The OI child may not exhibit the hallmark clinical features of OI, such as blue sclera, bone deformity, or brittle teeth.
Fortunately, there are several steps that professionals can take to help determine whether fractures are due to undiagnosed osteogenesis imperfecta.
- Obtain a family history. Was either parent ever diagnosed with OI or any brittle bone disorder? Do either parent, siblings, or extended family members have a history of childhood fractures, spinal curvature, brittle teeth, hearing loss, or other clinical features that might indicate that they have a mild case of OI that was never diagnosed? It is not uncommon for the severity of OI to vary even within the same family.
- Look for clinical features of OI in the child--blue sclera; translucent, opalescent, or discolored teeth (even in unerupted teeth in babies); a triangular shaped face; barrel-shaped rib cage; easy bruising; thin skin; excessive sweating; and other features. However, it is possible for children with OI to exhibit none or few of the outward clinical features.
- Consult a health care professional who has experience diagnosing or treating children with OI. Generally, clinical geneticists are familiar with OI diagnosis. They have available to them biochemical (collagen) and molecular (DNA) tests that can help confirm a diagnosis of OI in some situations. These tests generally require several weeks before results are known, and approximately 10 to 15 percent of individuals with mild OI who have collagen testing, and approximately 5 percent of those who have genetic testing, test negative for OI despite having the disorder.
OI is not normally associated with calcium or phosphate deficiency, so it cannot be diagnosed by measuring the levels of these substances in the blood.
The national Osteogenesis Imperfecta Foundation maintains a Physician Referral Database and can refer you to an appropriate professional.
This information brought to you by
the Osteogenesis Imperfecta Founation.
For more informaiton, contact:
The Osteogenesis Imperfecta Foundation, Inc.
804 West Diamond Ave., Suite 210
Gaithersburg, MD 20878
Phone: (301) 947-0083 or (800) 981-2663
Fax: (301) 947-0456
Web site: http://www.oif.org/