A mild form of Roberts/SC phocomelia syndrome with asymmetrical reduction of the upper limbs

Clin Genet. 1996 May;49(5):274-6. doi: 10.1111/j.1399-0004.1996.tb03787.x.

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.

MeSH terms

  • Abnormalities, Multiple / diagnostic imaging
  • Abnormalities, Multiple / genetics*
  • Abnormalities, Multiple / pathology
  • Arm / abnormalities*
  • Arm / diagnostic imaging
  • Arm / pathology
  • Bone and Bones / diagnostic imaging
  • Female
  • Humans
  • Infant
  • Syndrome
  • Ultrasonography