Pseudo‐trisomy 13 syndrome with upper limb shortness and radial hypoplasia

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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.