Roberts-Sc Phocomelia Syndrome with Exencephaly

We report a 18 weeks old fetus with the typical limb reduction anomalies of SC phocomelia syndrome, associated with exencephaly and unilateral anophthalmia, a feature previously reported in only 2 cases of severe Roberts syndrome. This observation brings another argument for lumping both diseases in a unique Roberts-SC phocomelia syndrome. Diagnosis was settled by the observation of premature centromeric splitting.