Omphalocele with absent radial ray (ORR): a case with diploid-triploid mixoploidy

Am J Med Genet. 1998 Jan 23;75(3):235-9.

Abstract

We observed omphalocele, absence of radii, hypoplasia of one humerus, a hemivertebra, and syndactyly in a stillborn male at 22 weeks of gestation. Craniofacial and genitourinary abnormalities were absent. DNA measurement by flow cytometry on a paraffin-embedded autopsy specimen showed 32% triploid cells. ORR (omphalocele-radial ray) complex appears to be a consistent combination, and diploid-triploid mixoploidy may be one of its causes.

Publication types

  • Case Reports
  • Comparative Study
  • Review

MeSH terms

  • Abnormalities, Multiple / diagnostic imaging
  • Abnormalities, Multiple / genetics*
  • Abnormalities, Multiple / pathology
  • Diploidy*
  • Fetal Death / diagnostic imaging
  • Fetal Death / genetics
  • Fetal Death / pathology
  • Hernia, Umbilical / diagnostic imaging
  • Hernia, Umbilical / genetics*
  • Hernia, Umbilical / pathology*
  • Humans
  • Male
  • Radiography
  • Radius / abnormalities*
  • Radius / diagnostic imaging