Gabriele Tonni1, Tonni Gabriele, Gianpaolo Grisolia, Grisolia Gianpaolo. 1. 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
Abstract
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.
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.