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X-ray of the hips in osteogenesis imperfecta, showing low bone density. The main symptom of osteogenesis imperfecta is fragile, low mineral density bones; all types of OI have some bone involvement. [5] In moderate and especially severe OI, the long bones may be bowed, sometimes extremely so. [28]
These alterations negatively affect tissues that are rich in type I collagen, such as the skin, bones, teeth, and tendons, leading to the signs and symptoms of type III osteogenesis imperfecta. Osteogenesis imperfecta, type IV : Several different types of mutations in the COL1A1 gene cause osteogenesis imperfecta type IV.
Type I collagen is the most abundant collagen of the human body, consisting of around 90% of the body's total collagen in vertebrates. Due to this, it is also the most abundant protein type found in all vertebrates. Type I forms large, eosinophilic fibers known as collagen fibers, which make up most of the rope-like dense connective tissue in ...
A triangular face, in the simplest sense, is a human face shape with a lower half that becomes relatively thin, approaching an appearance of a triangle with a tip facing downwards. It is not necessarily caused by any disease, but is common in individuals with Osteogenesis Imperfecta. [1]
In classic non-deforming osteogenesis imperfecta with blue sclerae or common variable osteogenesis imperfecta with normal sclerae, nearly 60% of cases are de novo. COL1A1/2-related osteogenesis imperfecta is identified by repeated fractures with trivial trauma, defective dentinogenesis imperfecta (DI), and hearing loss.
The body-positive movement has encouraged people, especially women, to see beauty in all shapes and sizes, and it's reminded us that body ideals are culturally constructed and not based on science.
A pathologic fracture is a bone fracture caused by weakness of the bone structure that leads to decrease mechanical resistance to normal mechanical loads. [1] This process is most commonly due to osteoporosis, but may also be due to other pathologies such as cancer, infection (such as osteomyelitis), inherited bone disorders, or a bone cyst.
A bone fracture may be the result of high force impact or stress, or a minimal trauma injury as a result of certain medical conditions that weaken the bones, such as osteoporosis, osteopenia, bone cancer, or osteogenesis imperfecta, where the fracture is then properly termed a pathologic fracture. [3]