Mesomelic dysplasia with short ulna,long fibula,brachymetacarpy, and micrognathia |
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| Authors: | Uta Burck Elke Schaefer K. R. Held |
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| Affiliation: | (1) Department of Human Genetics, University of Hamburg, Martinistraße 52, D-2000 Hamburg, FRG;(2) Department of Pediatric Radiology, University of Hamburg, D-2000 Hamburg, FRG |
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| Abstract: | A girl with a  new variant of mesomelic dysplasia is reported. The disorder is characterized by mesomelic brachymely, especially of the arms, a short ulna, relatively long fibula, brachymetacarpy, minor symmetrical changes at the hands, developmental arrest of the spine, contractures, and micrognathia. The clinical and radiological differential diagnostic features are discussed. |
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| Keywords: | Mesomelic dysplasia Short ulna Short metacarpals Relatively long fibula Micrognathia |
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