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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 ).
Treatment is done on the symptoms themselves. ... they described three families with osteogenesis imperfecta, ... clinical, genetic, and treatment-response study of ...
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]
These include osteogenesis imperfecta, [63] Multicentric carpotarsal osteolysis syndrome, [69] Multicentric Osteolysis, Nodulosis, and Arthropathy, [70] Marfan syndrome, [63] hemochromatosis, [4] hypophosphatasia [71] (for which it is often misdiagnosed), [72] glycogen storage diseases, homocystinuria, [63] Ehlers–Danlos syndrome, [63 ...
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
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.
Osteoporosis is rare in children and adolescents. When it occurs, it is usually secondary to some other condition, [1] e.g. osteogenesis imperfecta, rickets, eating disorders or arthritis. In some cases, there is no known cause and it is called idiopathic juvenile osteoporosis. Idiopathic juvenile osteoporosis usually goes away spontaneously. [2]
It is also used as an experimental treatment of the bone disorder osteogenesis imperfecta. It has been studied in the treatment of complex regional pain syndrome . [ 2 ]