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

Am J Med Genet. 1992 Nov 15;44(5):638-40. doi: 10.1002/ajmg.1320440522.

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.

Publication types

  • Case Reports

MeSH terms

  • Arm / abnormalities*
  • Child, Preschool
  • Chromosomes, Human, Pair 13*
  • Diagnosis, Differential
  • Female
  • Holoprosencephaly / diagnosis*
  • Humans
  • Infant, Newborn
  • Radius / abnormalities*
  • Syndrome
  • Toes / abnormalities
  • Trisomy