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Osteogenesis Imperfecta
Alternate Names : Brittle Bone Disease
 See all Pictures & Images
Diagnosis & Tests
A physical examination may confirm the presence of fractures, deformities, and other symptoms.
Bone X-rays may show multiple healed fractures.
The diagnosis is made by collagen studies done on a skin punch biopsy. Once the specific molecular diagnosis is known, family members can be tested by a DNA blood test. DNA testing on prenatal chorionic villus samples (CVS) can make the diagnosis during pregnancy.
Severe OI is visible on prenatal ultrasound as early as 16 weeks.
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- Hypertension (High Blood Pressure)
- Attention Deficit/Hyperactivity Disorder (ADHD - Pediatric)
- Memory Loss
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• Definition
• Overview, Causes, & Risk Factors
• Symptoms & Signs
• Prevention
• Diagnosis & Tests
• Treatment
• Prognosis
• Complications
• Calling Your Health Care Provider
• Pictures & Images
Topics that might be of interest to you Diseases & Conditions
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Tests & Exams
• Bone X-Ray
Other Topics
• Broken Bone
• Hearing Loss
• Physical Examination
• Short Stature
Review Date : 7/26/2002
Reviewed By : Elizabeth Hait, M.D., Department of Pediatrics, Rainbow Babies and Children's Hospital, Case Western Reserve University, Cleveland, OH. Review provided by VeriMed Healthcare Network.
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