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Multiple epiphyseal dysplasia
84%
2153/2578
Achondroplasia
3%
76/2578
Diastrophic dysplasia
6%
164/2578
Perthes disease
1%
28/2578
Metaphyseal chondrodysplasia
142/2578
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The clinical presentation and radiogaphs are consistent with Multiple epiphyseal dysplasia. Multiple epiphyseal dysplasia is caused by a mutation in the COMP gene that leads to delayed and irregular ossification of the epiphyses of the long bones. Merritt et al. describes a novel technique of creating COMP mutations in vitro to study pseudoachondroplasia and MED. Rimoin et al. used electron microscopy and genetic anaylsis to exclude an entire family of loci as the potential genetic cause of MED and psuedoachondroplasia. Ballock et al. reviews the biology and function of the growth plate. They report pelvis radiographs of MED are classically similar to Perthes disease, the key difference being that changes occur simultaneously in both hips in MED. Figure A demonstrates short, stunted proximal femur with epiphyseal irregularities and incongruity of the femoral head. Figure B demonstrates a valgus left knee and flattened femoral condyles. Figure C shows shortened metacarpals and irregularities throughout the epiphyses of the metacarpals and phalanges.
4.2
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