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Multiple Epiphyseal Dysplasia. Multiple Epiphyseal Dysplasia. Normal. What is Multiple Epiphyseal Dysplasia?. Multiple epiphyseal dysplasia (MED) is a common form of skeletal dysplasia, and it is characterized by variable degrees of epiphyseal* abnormality.
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What is Multiple Epiphyseal Dysplasia? • Multiple epiphyseal dysplasia (MED) is a common form of skeletal dysplasia, and it is characterized by variable degrees of epiphyseal* abnormality. * epiphysis is an either end of a long bone
But in fact, it’s rather a group of diseases. Mutations in six non-allelic genes are associated with MED (COMP, DTDST, MATN3, COL9A1, COL9A2 and COL9A3) • ...and depending on which gene is affected presentation of MED may vary • ...however, radiologic diagnosis of MED is possible
MED may be uncommon in physician’s daily practice, and not all of doctors are able to recognize it.
Radiographs • Spine • T12/L1 notching and deformed ring apophysis • Hands • short, carpal bones more delayed than phalangeal epiphysis, • Hips • irregular thigh bone which is bilateral and symmetric • Knees • knock-knee or bow-leggedness
How about teaching computer to recognize multiple epiphyseal dysplasia?