Definition:
Osteogenesis imperfecta (OI) is a rare genetic disorder that is characterized by the tendency of the bones to break easily, often with little or possibly no apparent cause. There is a classification system for the different types of OI. This is designed to help describe how severely a patient with OI is affected.
Diagnosis:
Initial diagnosis of OI may be solely based on the clinical features. DNA testing is usually performed to confirm for possible collagen mutations.
Treatment:
Up until today, there is still no known cure to OI. Most of the treatments and medications are targeted to prevent as well as control the symptoms. These treatments will hopefully improve independent mobility of the patient and prevention of fractures. Mobility aids may also be required such as wheelchairs, and braces, especially in severe cases.
Symptoms and Signs:
The characteristics of OI may vary greatly from one person to another, even among patients suffering from the same type of OI or those with similar hereditary disposition. Some of the symptoms include these manifestations: triangular face, spinal curvature, brittle teeth, hair loss, and underdeveloped lungs.
Causes:
Most of the cases of OI are primarily caused by the defect of the dominant genes. This means, there is a mutation copy of the gene and is passed on by the parent to the child. About 10-15 % of the cases are resulting from a recessive mutation. In such case, the child inherits the defective gene from both parents.
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