The other diseases for which Osteogenesis imperfecta is listed as a possible alternative diagnosis in their lists include:
Look for Van der Hoeve's syndrome in cases of osteogenesis imperfecta: Van Der Hoeve's syndrome is characterised by a triad of osteogenesis imperfecta, otosclerosis and blue sclera. It occurs due to a defect in collagen synthesis which affects the bones, sclera and the ear ossicles. Defect in collagen synthesis causes multiple fractures in osteogenesis imperfecta, fixation of the footplate of stapes hence causing limited mobility of the stapes causing deafness in otosclerosis and the blue sclera appearance is due to the excessively thin sclera reflecting the uveal tissue. Osteogenesis imperfecta must be differentiated from other conditions such as Battered baby syndrome, juvenile osteoporosis and steroid induced osteoporosis.
Read these general articles with an overview of misdiagnosis issues.
When checking for a misdiagnosis of Osteogenesis imperfecta or confirming a diagnosis of Osteogenesis imperfecta, it is useful to consider what other medical conditions might be possible misdiagnoses or other alternative conditions relevant to diagnosis. These alternate diagnoses of Osteogenesis imperfecta may already have been considered by your doctor or may need to be considered as possible alternative diagnoses or candidates for misdiagnosis of Osteogenesis imperfecta. For a general overview of misdiagnosis issues for all diseases, see Overview of Misdiagnosis.
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