title: 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.
abstract: OBJECTIVE
  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.
authors.affiliation: Department of Obstetrics and Gynecology, Prenatal Diagnostic Center, Guastalla Civil Hospital, ASL Reggio Emilia, Via Donatori Sangue, 2, 42016 Guastalla Reggio Emilia, Italy. tonni.gabriele@ausl.re.it
authors.forename: Gabriele
authors.initials: G
authors.lastname: Tonni
authors.forename: Tonni
authors.initials: T
authors.lastname: Gabriele
authors.forename: Gianpaolo
authors.initials: G
authors.lastname: Grisolia
authors.forename: Grisolia
authors.initials: G
authors.lastname: Gianpaolo
mesh_terms: D000328:Adult; D000818:Animals; D041321:Chromosomes, Human, X; D003388:Cranial Fossa, Posterior / Q000002:abnormalities / Q000000981:diagnostic imaging*; D004480:Ectromelia / Q000000981:diagnostic imaging* / Q000196:embryology* / Q000235:genetics; D005260:Female; D006801:Humans; D021621:Imaging, Three-Dimensional; D009030:Mosaicism; D011247:Pregnancy; D011261:Pregnancy Trimester, First; D011379:Prognosis; D057885:Triploidy; D016216:Ultrasonography, Prenatal