Tetra-amelia and splenogonadal fusion in Roberts syndrome

Roberts-SC phocomelia syndrome comprises limb deficiencies of variable severity, facial clefts, and other anomalies. Tetra-amelia may also be associated with facial clefts and similar anomalies, We report on a female infant with severe tetra-amelia, micrognathia, cleft palate, splenogonadal fusion, and premature centromere separation, We propose that this represents the severe expression of the Reberts-SC phocomelia syndrome. (C) 1997 Wiley-Liss, Inc.