The Roberts tetraphocomelia syndrome: identical limb defects in two siblings

Ann Genet. 1987;30(4):243-5.

Abstract

In this report we describe two siblings; a female newborn who died shortly after birth, and a prenatally diagnosed female fetus with an identical type of severe, symmetrical tetraphocomelia. Internal malformation, cleft lip/cleft palate and ocular anomalies were absent in both. Premature centromere separation was not observed. On the basis of these findings the nosology of the tetraphocomelia syndromes (Roberts syndrome and the SC phocomelia/pseudothalidomide syndrome) is briefly discussed.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Female
  • Humans
  • Infant, Newborn
  • Pregnancy
  • Prenatal Diagnosis
  • Syndrome