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Prenatal Sonographic Image of Sirenomelia with Anencephaly and Craniorachischisis Totalis

Sirenomelia is a rare congenital malformation characterized by varying degrees of fusion of the lower extremities. It is commonly associated with severe urogenital and gastrointestinal malformations; however, the association of sirenomelia with anencephaly and rachischisis totalis is extremely rare....

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Autores principales: Sugiura, Takako, Sato, Yuka, Nakanami, Naoyuki, Tsukimori, Kiyomi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi 2018
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6304208/
https://www.ncbi.nlm.nih.gov/pubmed/30622827
http://dx.doi.org/10.1155/2018/7058253
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author Sugiura, Takako
Sato, Yuka
Nakanami, Naoyuki
Tsukimori, Kiyomi
author_facet Sugiura, Takako
Sato, Yuka
Nakanami, Naoyuki
Tsukimori, Kiyomi
author_sort Sugiura, Takako
collection PubMed
description Sirenomelia is a rare congenital malformation characterized by varying degrees of fusion of the lower extremities. It is commonly associated with severe urogenital and gastrointestinal malformations; however, the association of sirenomelia with anencephaly and rachischisis totalis is extremely rare. To our knowledge, the prenatal sonographic images of this association have not been previously published. Here, we present prenatal sonographic images of this association, detected during the 17th week of gestation through combined two-dimensional, four-dimensional, and color Doppler ultrasound. Two-dimensional ultrasound images showed anencephaly, spina bifida, and possible fusion of the lower limbs. Three-dimensional HDlive rendering images confirmed the final diagnosis of sirenomelia with anencephaly and rachischisis totalis. The patient opted to undergo medical termination of pregnancy and delivered a fetus with fused lower limbs, anencephaly, and rachischisis totalis confirming the in utero imaging findings. Awareness of these rare associations will help avoid misdiagnoses and facilitate prenatal counselling. This case highlights the importance of a thorough ultrasound examination.
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spelling pubmed-63042082019-01-08 Prenatal Sonographic Image of Sirenomelia with Anencephaly and Craniorachischisis Totalis Sugiura, Takako Sato, Yuka Nakanami, Naoyuki Tsukimori, Kiyomi Case Rep Obstet Gynecol Case Report Sirenomelia is a rare congenital malformation characterized by varying degrees of fusion of the lower extremities. It is commonly associated with severe urogenital and gastrointestinal malformations; however, the association of sirenomelia with anencephaly and rachischisis totalis is extremely rare. To our knowledge, the prenatal sonographic images of this association have not been previously published. Here, we present prenatal sonographic images of this association, detected during the 17th week of gestation through combined two-dimensional, four-dimensional, and color Doppler ultrasound. Two-dimensional ultrasound images showed anencephaly, spina bifida, and possible fusion of the lower limbs. Three-dimensional HDlive rendering images confirmed the final diagnosis of sirenomelia with anencephaly and rachischisis totalis. The patient opted to undergo medical termination of pregnancy and delivered a fetus with fused lower limbs, anencephaly, and rachischisis totalis confirming the in utero imaging findings. Awareness of these rare associations will help avoid misdiagnoses and facilitate prenatal counselling. This case highlights the importance of a thorough ultrasound examination. Hindawi 2018-11-28 /pmc/articles/PMC6304208/ /pubmed/30622827 http://dx.doi.org/10.1155/2018/7058253 Text en Copyright © 2018 Takako Sugiura et al. https://creativecommons.org/licenses/by/4.0/ This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Report
Sugiura, Takako
Sato, Yuka
Nakanami, Naoyuki
Tsukimori, Kiyomi
Prenatal Sonographic Image of Sirenomelia with Anencephaly and Craniorachischisis Totalis
title Prenatal Sonographic Image of Sirenomelia with Anencephaly and Craniorachischisis Totalis
title_full Prenatal Sonographic Image of Sirenomelia with Anencephaly and Craniorachischisis Totalis
title_fullStr Prenatal Sonographic Image of Sirenomelia with Anencephaly and Craniorachischisis Totalis
title_full_unstemmed Prenatal Sonographic Image of Sirenomelia with Anencephaly and Craniorachischisis Totalis
title_short Prenatal Sonographic Image of Sirenomelia with Anencephaly and Craniorachischisis Totalis
title_sort prenatal sonographic image of sirenomelia with anencephaly and craniorachischisis totalis
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6304208/
https://www.ncbi.nlm.nih.gov/pubmed/30622827
http://dx.doi.org/10.1155/2018/7058253
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