Osteogenesis imperfecta

Osteogenesis Imperfecta (OI), commonly known as brittle bone disease, is a spectrum of genetic disorders primarily affecting the bones, leading to increased fragility and susceptibility to fractures.

Introduction

OI is characterized by bones that break easily, often with no apparent cause. The condition can range in severity from mild to severe, and can affect individuals differently, even within the same family.

Clinical Presentation

People with OI might have a blue tinge to the whites of the eyes (sclera), short height, loose joints, and hearing loss. The disease can also cause respiratory issues due to weak respiratory muscles and a restrictive lung disease pattern. Dental abnormalities, often termed "dentinogenesis imperfecta," can lead to discolored, brittle teeth that are prone to cavities.

Genetics

OI is caused by mutations in the genes that produce collagen, a protein crucial for bone strength. Most cases of OI are inherited in an autosomal dominant manner, meaning that an affected person has a 50% chance of passing the disorder to each of their children.

Treatment and Management

There's currently no cure for OI, but the symptoms can be managed to help individuals with OI maintain their independence. Treatments may include physical therapy, surgery, medications, and lifestyle modifications.

Complications

Possible complications of OI include cervical artery dissection and aortic dissection, which are serious conditions requiring immediate medical attention.

Epidemiology

OI affects approximately 1 in 20,000 people, making it a rare disorder. It affects both males and females of all ethnic backgrounds.

See Also

• Brittle bone disease
• Collagen
• Dentinogenesis imperfecta

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