Tetra-amelia with lung hypoplasia and facial clefts, Roberts-SC syndrome: report of two cases

Pediatr Surg Int. 2010 Oct;26(10):1049-52. doi: 10.1007/s00383-010-2656-8.

Abstract

Although limb anomalies are a common clinical problem, they are rarely studied. The spectrum of limb anomalies ranges from very mild disorders such as syndactyly to very severe forms such as absent limb (amelia). Tetra-amelia is a rare anomaly with complete or partial deficiency of all four limbs. It may be isolated or associated with other anomalies. Roberts-SC phocomelia syndrome comprises four limb deficiencies, lung hypoplasia, facial clefts and other anomalies. We describe two cases that presented to us.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple*
  • Craniofacial Abnormalities / diagnosis*
  • Diagnosis, Differential
  • Ectromelia / diagnosis*
  • Fatal Outcome
  • Female
  • Humans
  • Hypertelorism / diagnosis
  • Infant
  • Infant, Newborn
  • Lung / abnormalities*
  • Lung Diseases / congenital*
  • Lung Diseases / diagnosis
  • Magnetic Resonance Imaging
  • Male

Supplementary concepts

  • Roberts Syndrome