The Roberts tetraphocomelia syndrome: identical limb defects in two siblings.

Two siblings are described; a female newborn who died shortly after birth, and a prenatally diagnosed female fetus with an identical type of severe, symmetrical tetraphocomelia, which was absent in both.

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.