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  • Title: Roberts-SC phocomelia syndrome with exencephaly.
    Author: Verloes A, Herens C, Van Maldergem L, Retz MC, Dodinval P.
    Journal: Ann Genet; 1989; 32(3):169-70. PubMed ID: 2817778.
    Abstract:
    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.
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