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  • Title: Pseudo-trisomy 13 syndrome with upper limb shortness and radial hypoplasia.
    Author: Boles RG, Teebi AS, Neilson KA, Meyn MS.
    Journal: Am J Med Genet; 1992 Nov 15; 44(5):638-40. PubMed ID: 1481825.
    Abstract:
    We report on a fetus with holoprosencephaly, postaxial polydactyly, multiple visceral anomalies, upper limb shortness, and radial hypoplasia with normal chromosomes. We provide a brief review of the newly delineated "pseudo-trisomy 13 syndrome." Severe limb shortness of radial hypoplasia has not been described previously in this syndrome. The present case may expand the spectrum of the pseudo-trisomy 13 syndrome, or may represent a distinct entity.
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