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Osteogenesis imperfecta ... Blue sclerae in a person with osteogenesis imperfecta. Diagnosis is typically based on medical imaging, ... In dogs, OI is an autosomal ...
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]
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.
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]
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]
It is most commonly a sequela of osteogenesis imperfecta, Paget's disease, osteomyelitis, tumour and tumour-like conditions (e.g. fibrous dysplasia). Coxa vara can happen in cleidocranial dysostosis .
Differential diagnosis: Osteogenesis imperfecta, congenital dwarfisms, skeletal dysplasias: Treatment: Asfotase alfa (Strensiq), an enzyme replacement therapy: Prognosis: Severe perinatal forms are lethal without treatment; adult forms may only show moderate symptoms: Frequency: Rare (1 in 100,000); [3] more common in some populations [4]
All of these changes prevent the normal production of mature type I collagen, which results in this severe condition, type II osteogenesis imperfecta. Osteogenesis imperfecta, type III: Mutations in the COL1A1 gene may result in the production of a protein that is missing segments, making it unusable for collagen production. Other mutations ...