Sirenomelia: a review on embryogenic enviromental theories, novel three-dimensional ultrasound imaging and first trimester diagnosis in a case of mosaic 69,XXX/46,XX fetus

Arch Gynecol Obstet. 2013 Jul;288(1):3-11. doi: 10.1007/s00404-013-2847-3. Epub 2013 Apr 27.


Purpose: Sirenomelia is caused by atrophy of the lower extremities that is commonly associated with gastrointestinal and urogenital malformations.

Methods: Embryogenic environmental theories and systematic review of the literature are reported.

Results: Genetic basis of the condition has been demonstrated in the animal model. In humans, association with de novo balanced translocation has only recently been documented.

Conclusions: A case of triploidy mosaic fetus with sirenomelia and posterior fossa anomaly diagnosed at first trimester using novel three-dimensional ultrasound imaging techniques is presented.

Publication types

  • Case Reports
  • Review
  • Systematic Review

MeSH terms

  • Adult
  • Animals
  • Chromosomes, Human, X
  • Cranial Fossa, Posterior / abnormalities
  • Cranial Fossa, Posterior / diagnostic imaging*
  • Ectromelia / diagnostic imaging*
  • Ectromelia / embryology*
  • Ectromelia / genetics
  • Female
  • Humans
  • Imaging, Three-Dimensional
  • Mosaicism
  • Pregnancy
  • Pregnancy Trimester, First
  • Prognosis
  • Triploidy*
  • Ultrasonography, Prenatal*