Micromelic type of spondylo-meta-epiphyseal dysplasia |
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Authors: | K Kozlowski |
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Institution: | (1) X-ray Department of the Pediatric Institute in Krakow, Poland;(2) Present address: Royal Alexandra Hospital for Children, Camperdown 2050, Sydney, NSW, Australia |
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Abstract: | A 4 8/12 years old girl with micromelic type of spondylo-meta-epiphyseal dysplasia is described. The spondylo-meta-epiphyseal dysplasias of micromelic type present a group of diseases with versatile clinical and radiographic findings. Marked shortening of stature with generalised spondylo-meta-epiphyseal changes in radiographic examination are a constant finding. No biochemical changes were yet reported. The difficulties of early recognition and classification of these cases are stressed. |
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Keywords: | Dwarfism bone dysplasia spondylo-meta-epiphyseal dysplasia micromelic type |
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