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      947-0456 www.oif.org bonelink@oif.org

The Osteogenesis Imperfecta Foundation, Inc. is the only voluntary national health organization dedicated to helping people cope with the problems associated with osteogenesis imperfecta. The Foundation's mission is to improve the quality of life for people affected by OI through research to find treatments and a cure, education, awareness, and mutual support.

Child Abuse or Osteogenesis Imperfecta?

Scenes like this occur in emergency rooms every day. But in this case, the cause

of the fractures is

child abuse. It is

, or

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.

Osteogenesis imperfecta is a genetic disorder. Most cases involve a defect in 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

type 1 collagen or

type 1 collagen. The result is bones that

break easily plus other connective tissue symptoms.

Several forms of OI have been described, representing wide variations in appearance and severity from one individual to another. Types of OI range from lethal in the newborn period to very mild. Recent research has identified two new moderately severe types that do not appear to have a type 1 collagen defect. It is estimated that 50,000 people have OI in the United States. It occurs in approximately 1:10,000 births.

Below are the clinical features of the major types of OI.

Children with milder OI, in particular, may have few obvious clinical features of OI.

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