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Signs and Symptoms, and diagnosis of OI Type I
-collagen is of normal quality, but produced in insufficient quantities
-bones fracture easily
-slight spinal curvature
-loose joints
-poor muscle tone
-discoloration of the sclera giving them a blue-gray color
-early loss of hearing in some children
-slight protrusion of the eyes
Diagnosis of OI is based primarily on clinical features
(These will be done if a child has an unexplained fracture resulting from or not from an injury or accident)
-standard X-rays may show "thin bones"
- a family history of bone fractures or other OI symptoms
-collagen testing of a skin biopsy/and or DNA testing of a blood sample will diagnose OI IN MOST CASES
*some of the other types of OI do not have collagen issues