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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]
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 symptoms of a vertebral collapse ("compression fracture") are sudden back pain, often with radicular pain (shooting pain due to nerve root compression) and rarely with spinal cord compression or cauda equina syndrome. Multiple vertebral fractures lead to a stooped posture, loss of height, and chronic pain with resultant reduction in mobility.
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
Diagnosis is suspected based on symptoms and X-rays with confirmation by genetic testing. [4] Other conditions that can produce similar symptoms include mandibuloacral dysplasia, pyknodysostosis, osteogenesis imperfecta, and Hajdu-Cheney syndrome. [5] Treatment includes supportive measures such as a device to protect the skull and dental care. [5]
Achondroplasia is one of several congenital conditions with similar presentations, such as osteogenesis imperfecta, multiple epiphyseal dysplasia tarda, achondrogenesis, osteopetrosis, and thanatophoric dysplasia. This makes estimates of prevalence difficult, with changing and subjective diagnostic criteria over time.
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.
[2] [3] The analogous condition in adults is osteomalacia. The most common cause of rickets is a vitamin D deficiency , although hereditary genetic forms also exist. [ 2 ] This can result from eating a diet without enough vitamin D , dark skin, too little sun exposure, exclusive breastfeeding without vitamin D supplementation, celiac disease ...