Premium
A mild form of Roberts/SC phocomelia syndrome with asymmetrical reduction of the upper limbs
Author(s) -
Concolino D.,
Sperlì D.,
Cinti R.,
Strisciuglio P.,
Andria G.
Publication year - 1996
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1996.tb03787.x
Subject(s) - reduction (mathematics) , medicine , geometry , mathematics
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.