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Are Certain Ethnic Groups At Higher Risk Of Osteogenesis Imperfecta
Osteogenesis imperfecta is a condition causing extremely fragile bones. Osteogenesis imperfecta (OI) is a congenital disease, meaning it is present at birth. It is frequently caused by defect in the gene that produces type 1 collagen, an important building block of bone. There are many different defects that can affect this gene. The severity of OI depends on ...Read more
I have osteogenesis imperfecta and I'm 8+1 weeks pregnant. Could this be a factor to cause miscarriage? Is this a high risk pregnancy?
Yes: Depending on the type of OI, there are a number of risks to you in pregnancy ranging from heart valve problems, aneurysms to fracture. Because connective tissue is an integral part of creating the various membranes to nurture the fetus, there can be additional risks for miscarriage and impact on fetal development. I would consider this to be a high risk pregnancy. ...Read more
No: A karyotype is useful for detecting chromosomal abnormalities where the number of actual chromosomes is abnormal (e.g., down syndrome or turner syndrome) or a large defect in a chromosome (like a duplication or translocation). Oi is caused by small mutations in a number of possible genes. There are some prenatal tests available for oi. ...Read moreSee 1 more doctor answer
There are 8 types: Dominantly Inherited Type I:Mildest form ~ 50% of total. Type II:Most severe form. High mortality rate Type III:Most severe type who survives neonatal period. Type IV: Moderate-severe growth retardation Type V: Moderate in severity. Hypertrophic calluses Type VI:Rare.Similar symptoms to OI Type IV Resessively inherited Types VII and VIII Type VII resembles IV and II Type VIII similar to II, III ...Read more
Collagen formation: Oi refers to a group of individual genetic errors, which are associated with a variety of collagen formation. Collagen is the mechanical foundation of body structure. Since the structure of bone depends on the mineralization of a complex called osteoid which is based on collagen, skeletal abnormalities, including deformity and fragility, are one of the most distressing characteristics of oi. ...Read moreSee 1 more doctor answer
Blue sclera: i.e the whites of the eyes have a blue tinge, and frequent fractures. ...Read more
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