- What are the treatments for osteogenesis imperfecta (OI)?
OI treatments are designed to prevent or control symptoms and may include fracture care, physical therapy, bracing, surgery, and medication
- Osteogenesis Imperfecta (OI) - NICHD - Eunice Kennedy Shriver National . . .
Osteogenesis imperfecta means “imperfect bone formation” and is commonly known as “brittle bone disease” or OI It is a rare genetic disorder that affects the protein collagen, which is found in bone, teeth, skin, tendons, and parts of the eye
- About Osteogenesis Imperfecta | NICHD - NICHD - Eunice Kennedy Shriver . . .
About Osteogenesis Imperfecta What is OI? OI, or “brittle bone disease,” is a condition causing fragile bones that break easily, sometimes for no obvious reason Some people with OI have only a few fractures in their lifetimes Others have hundreds 1 People who have severe forms of OI have fragile bones that are also deformed
- What causes osteogenesis imperfecta (OI)? - NICHD
What causes osteogenesis imperfecta (OI)? OI is caused by defects in or related to a protein called type 1 collagen Collagen is an essential building block of the body The body uses type 1 collagen to make bones strong and to build tendons, ligaments, teeth, and the whites of the eyes Certain gene changes, or mutations, cause the collagen
- How do healthcare providers diagnose osteogenesis imperfecta (OI)?
How do healthcare providers diagnose osteogenesis imperfecta (OI)? If OI is moderate or severe, healthcare providers usually diagnose it during prenatal ultrasound at 18 to 24 weeks of pregnancy If a parent or sibling has OI, a healthcare provider can test the DNA of the fetus for the presence of an OI mutation
- NICHD Osteogenesis Imperfecta Research Information
NICHD Osteogenesis Imperfecta Research Information NICHD conducts and supports research on many aspects of osteogenesis imperfecta, including genetics and treatment NICHD research has been instrumental in the discovery of the genes that cause recessive OI, as well as the development of mouse models that mimic the disease
- Understanding Lung Disease in People with Osteogenesis Imperfecta
Lung disease is the leading cause of illness and death for people with osteogenesis imperfecta (OI), a group of rare genetic bone fragility disorders that affect the structure or quantity of the protein collagen Most cases of OI are caused by mutations in the genes that provide instructions for type 1 collagen, the major protein component of bone
- X-linked brittle bone disease discovered by NICHD, international . . .
NICHD researchers, along with colleagues from Thailand and Switzerland, discovered a form of osteogenesis imperfecta, or brittle bone disease, resulting from a gene defect on the X chromosome
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