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Diagnosis Mistakes » Look for Van der Hoeve's syndrome in cases of osteogenesis imperfecta

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.

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