AllRefer Health - Osteogenesis Imperfecta Diagnosis & Tests (Brittle Bone Disease)

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You are here : AllRefer.com > Health > Diseases & Conditions > Osteogenesis Imperfecta: Diagnosis, Tests, & Signs of Osteogenesis Imperfecta

Osteogenesis Imperfecta


•	Definition
•	Overview, Causes, & Risk Factors
•	Symptoms & Signs
•	Prevention
•	Diagnosis & Tests
•	Treatment
•	Expectations or Prognosis
•	Complications
•	Calling Your Health Care Provider
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Alternate Names : Brittle Bone Disease

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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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• Definition
• Overview, Causes, & Risk Factors
• Symptoms & Signs
• Prevention
• Diagnosis & Tests
• Treatment
• Prognosis
• Complications
• Calling Your Health Care Provider
• Pictures & Images

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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