What bones are affected by osteogenesis imperfecta?
In addition, affected infants have extremely fragile bones and numerous fractures present at birth. The ribs and long bones of the legs are often malformed. Infants with OI type II have underdeveloped lungs and an abnormally small upper chest (thorax) that may result in life-threatening respiratory insufficiency.
What are the 2 types of osteogenesis?
Type I (also known as classic non-deforming osteogenesis imperfecta with blue sclerae) is the mildest form of osteogenesis imperfecta. Type II (also known as perinatally lethal osteogenesis imperfecta) is the most severe.
What is the life expectancy of someone with brittle bone disease?
Life expectancy for males with OI was 9.5 years shorter than that for the general population (72.4 years vs 81.9 years), and for females, was 7.1 years shorter than that for the general population (77.4 years vs 84.5 years).
What are the four types of osteogenesis imperfecta?
What are the types of osteogenesis imperfecta?
- Type I: This is the mildest and most common form of OI. Type I leads to broken bones (bone fractures) or muscle weakness.
- Type II: Babies born with Type II often can’t breathe and die young.
- Type III: Babies often have broken bones at birth.
- Type IV: Bones may break easily.
Why do bones break easily?
It’s caused by a defect in a gene that is supposed to make a substance called collagen. Collagen is a protein in your body that forms and strengthens bones. If you don’t have enough of it, your bones become very weak and will break easily.
What causes bones to break easily in a child?
Osteoporosis is a condition where the bones become weak, brittle and prone to fracture. When it occurs in children, there is typically an underlying cause, such as osteogenesis imperfecta, Type 1 diabetes, Type 2 diabetes, hyperthyroidism or calcium and vitamin D deficiency.
Where can I find information on osteogenesis imperfecta?
Genetics Home Reference (GHR)contains information on Osteogenesis imperfecta. This website is maintained by the National Library of Medicine. The National Human Genome Research Institute’s(NHGRI) website has an information page on this topic.
Can osteogenesis imperfecta be a nonaccidental injury?
Classical osteogenesis imperfecta and allegations of nonaccidental injury We report 12 patients with osteogenesis imperfecta initially diagnosed with nonaccidental injuries. As a result, formal hearings, care proceedings, and criminal proceedings ensued and seven of the children were removed from their parents.
Is osteogenesis imperfecta autosomal dominant?
Listen Osteogenesis imperfecta (OI) may be caused by changes (mutations) in any of several genes. Osteogenesis imperfecta (OI) types I, II, III, IV, V and VI, are inherited in an autosomal dominant manner. Genetic testing is available for individuals with osteogenesis imperfecta.
Is osteogenesis imperfecta misdiagnosed as child abuse?
The differential diagnosis of child abuse includes osteogenesis imperfecta (OI). Mild phenotypes of OI may be misdiagnosed as child abuse. The purpose of this study was to review the experience of families in which OI was misdiagnosed as child abuse.