What Is Osteogenesis Imperfecta?
Reviewed: Dr. Mera
4. Symptoms
Although symptoms vary greatly from case to case, there are manifestations that may be seen in many types of OI. Bones that bend and break easily are the most common characteristic of this genetic condition. Lack of adequate collagen causes skeletal deformities, spinal curves, short stature, and bowed limbs.
Respiratory problems, lung and heart defects, and loose joints may be present. Hearing problems can develop in children with Type I OI. Another marker is a bluish color in the whites of the eyes called blue sclerae. It results from thin collagen fibers that allow the veins underneath to show through.
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