A mild form of Roberts/SC phocomelia syndrome with asymmetrical reduction of the upper limbs.
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.
Concolino
D
D
Department of Pediatrics, Faculty of Medicine, Catanzaro, University of Reggio Calabria, Italy.
Sperlì
D
D
Cinti
R
R
Strisciuglio
P
P
Andria
G
G
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