Doctor insights on:
Is Osteogenesis Imperfecta A Form Of Dwarfism
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
No: Osteogenesis imperfecta deals with fragile bones and increase risk of fractures easily. Now with these fractures children's stature can be shorter but it is not a form frust of dwarfism. Various types exist and will manifest as fractures immediate at birth versus those that can occur later in infancy. ...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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