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  • Title: A mild form of Roberts/SC phocomelia syndrome with asymmetrical reduction of the upper limbs.
    Author: Concolino D, Sperlì D, Cinti R, Strisciuglio P, Andria G.
    Journal: Clin Genet; 1996 May; 49(5):274-6. PubMed ID: 8832138.
    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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