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Osteogenesis imperfecta is a group of genetic disorders, all of which cause bone fragility. OI has high genetic heterogeneity , that is, many different genetic mutations lead to the same or similar sets of observable symptoms ( phenotypes ).
Diagnosis of Bruck syndrome must distinguish the association of contractures and skeletal fragility. Ultrasound is used for prenatal diagnosis. The diagnosis of a neonate bears resemblance to arthrogryposis multiplex congenital, and later in childhood to osteogenesis imperfecta. [1]
Foods that reduce inflammation include fatty fish, tea, walnuts, and more. Here, a dietitian explains the best anti-inflammatory foods to eat. A Dietitian’s Take on Foods That Fight Inflammation
The diet must ensure optimal calcium intake (of at least one gram daily) and measuring vitamin D levels is recommended, and to take specific supplements if necessary. [ 123 ] Osteoporosis can affect nearly 1 in 3 women and the bone loss is the most rapid within the first 2–3 years after menopause.
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.
Ehlers–Danlos syndrome - diverse collection of disorders distinguished by the fragility of soft connective tissues and widespread symptoms affecting the skin, ligaments, joints, blood vessels, and internal organs. [5] Osteogenesis imperfecta - hereditary condition marked by reduced bone mass, weakened bones, increased brittleness, and short ...
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.
It was first discovered in 1972 by Bianchine et al. when they described three families with osteogenesis imperfecta, pseudoglioma, retinoblastoma, and recurrence of bone fractures. [ 8 ] References