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By the age of 50, about 50% of adults ... Blue sclerae in a person with osteogenesis imperfecta. Diagnosis is typically based on medical imaging, including plain X ...
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.
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]
Wormian bones are a marker for some diseases and important in the primary diagnosis of brittle bone disease: osteogenesis imperfecta. [5] Wormian bones may also be seen in: [6] Pycnodysostosis; Osteogenesis imperfecta; Rickets "Kinky-hair" Menke's syndrome; Cleidocranial dysostosis; Hypothyroidism and hypophosphatasia; Otopalatodigital syndrome
It can be useful to enquire about symptoms of osteogenesis imperfecta, as Type I Dentinogenesis Imperfecta (Shield's Classification) is associated with osteogenesis imperfecta. [2] Notable information includes: History of bone fracture caused by minimal trauma; Short stature; Blue sclera; Hearing loss [2] [5]
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]
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]
Because only one copy of the gene is directing the cell to make pro-alpha1(I) chains, cells from people with this disorder make only half of the normal amount of type I collagen, which results in bone fragility and other symptoms. Osteogenesis imperfecta, type II: Many different types of mutations in the COL1A1 gene can cause osteogenesis ...