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Archives of Gynecology and Obstetrics

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01-07-2013 | Maternal-Fetal Medicine

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

Authors: Tonni Gabriele, Grisolia Gianpaolo

Published in: Archives of Gynecology and Obstetrics | Issue 1/2013

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.

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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
Authors: Tonni Gabriele
Grisolia Gianpaolo
Publication date: 01-07-2013
Publisher: Springer-Verlag
Published in: Archives of Gynecology and Obstetrics / Issue 1/2013
Print ISSN: 0932-0067
Electronic ISSN: 1432-0711
DOI: https://doi.org/10.1007/s00404-013-2847-3

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Springer Medicine

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

Purpose

Methods

Results

Conclusions

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Abstract

Purpose

Methods

Results

Conclusions

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