title: A mild form of Roberts/SC phocomelia syndrome with asymmetrical reduction of the upper limbs.
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.
authors.affiliation: Department of Pediatrics, Faculty of Medicine, Catanzaro, University of Reggio Calabria, Italy.
authors.forename: D
authors.initials: D
authors.lastname: Concolino
authors.forename: D
authors.initials: D
authors.lastname: Sperlì
authors.forename: R
authors.initials: R
authors.lastname: Cinti
authors.forename: P
authors.initials: P
authors.lastname: Strisciuglio
authors.forename: G
authors.initials: G
authors.lastname: Andria
mesh_terms: D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging / Q000235:genetics* / Q000473:pathology; D001132:Arm / Q000002:abnormalities* / Q000000981:diagnostic imaging / Q000473:pathology; D001842:Bone and Bones / Q000000981:diagnostic imaging; D005260:Female; D006801:Humans; D007223:Infant; D013577:Syndrome; D014463:Ultrasonography