A mild form of Roberts/SC phocomelia syndrome with asymmetrical reduction of the upper limbs |
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| Authors: | D. Concolino,D. Sperlì ,R. Cinti,P. Strisciuglio,G. Andria |
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| Affiliation: | Department of Pediatrics, Faculty of Medicine, Catanzaro, University of Reggio Calabria;Department of Pediatrics, University of Naples, Naples;Cytogenetic Laboratory, Institute "G. Gaslini", Genova, Italy |
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| Abstract: | Roberts syndrome is a rare autosomal recessive condition characterized by growth retardation, cranio-facial abnormalities and symmetrical limb reduction of variable severity. Most patients with Roberts syndrome show a typical cytogenetic finding known as "Roberts syndrome effect". We describe a 4-month-old patient with a mild form of this syndrome, who presented with an asymmetrical reduction of the right upper limb. |
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| Keywords: | premature centromere separation Roberts syndrome SC phocomelia syndrome |
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