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 | springermedizin.de

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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

verfasst von: Tonni Gabriele, Grisolia Gianpaolo

Erschienen in: Archives of Gynecology and Obstetrics | Ausgabe 1/2013

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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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Titel: 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
verfasst von: Tonni Gabriele
Grisolia Gianpaolo
Publikationsdatum: 01.07.2013
Verlag: Springer-Verlag
Erschienen in: Archives of Gynecology and Obstetrics / Ausgabe 1/2013
Print ISSN: 0932-0067
Elektronische ISSN: 1432-0711
DOI: https://doi.org/10.1007/s00404-013-2847-3

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