- What are the treatments for osteogenesis imperfecta (OI)?
Osteogenesis imperfecta In F Singer (Ed ), Diseases of bone and metabolism Retrieved May 29, 2012
- 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
- How do healthcare providers diagnose osteogenesis imperfecta (OI)?
If OI is moderate or severe, healthcare providers usually diagnose it during prenatal ultrasound If OI is milder, parents or healthcare providers may notice symptoms in infants or children
- What causes osteogenesis imperfecta (OI)? - NICHD
OI is caused by defects in or related to a protein called type 1 collagen Collagen is an essential building block of the body, used to make bones strong and to build tendons, ligaments, and teeth
- About Osteogenesis Imperfecta | NICHD - NICHD - Eunice Kennedy Shriver . . .
OI, or “brittle bone disease,” is a condition causing fragile bones that break easily
- NICHD Osteogenesis Imperfecta Research Information
NICHD conducts research on osteogenesis imperfecta in order to clarify the ways in which the primary gene defect causes skeletal fragility and other connective-tissue symptoms
- 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 . . .
In mild forms, bones may break only a few times in a person's life People with severe forms of osteogenesis imperfecta may have hundreds of bone fractures in their lifetimes Before the current study, all of the known forms of osteogenesis imperfecta were found to arise from genes on the autosomal, or non-sex, chromosomes
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