What is the cause of osteogenesis imperfecta?
What is the cause of osteogenesis imperfecta?
Causes and Risk Factors Osteogenesis imperfecta is caused by a faulty gene that affects the body’s ability to produce collagen. The quantity of collagen produced is either lower or of a poorer quality. If one parent has osteogenesis imperfecta, a child has a 50% chance of having the condition.
What is Osteoneogenesis?
: development and formation of bone.
Can osteogenesis imperfecta be cured?
There’s no cure for osteogenesis imperfecta. But a care team can help kids with problems related to the condition. If your child has brittle bone disease, the care team can include: a primary care provider (for routine health care)
Who is affected by osteogenesis imperfecta?
Affected Populations Osteogenesis imperfecta affects males and females in equal numbers. The incidence of cases recognizable at birth is 1:10-20,000. More mild types that are only recognized later in life occur at about the same incidence. It is estimated that 20,000 to 50,000 individuals in the United States have OI.
At what age is osteogenesis imperfecta diagnosed?
If OI is moderate or severe, healthcare providers usually diagnose it during prenatal ultrasound at 18 to 24 weeks of pregnancy.
Can osteogenesis imperfecta be detected before birth?
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.
What is a Type 2 baby?
Type II. Most severe type. A baby has very short arms and legs, a small chest, and soft skull. He or she may be born with fractured bones. He or she may also have a low birth weight and lungs that are not well developed.
Can someone with OI get pregnant?
Conclusion. Good outcomes are reported when a multidisciplinary team is involved in the care of patients with osteogenesis imperfecta. Pregnancies can be carried to term but require close antenatal surveillance. Prenatal diagnosis is possible with ultrasound and genetic testing.