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Sirenomelia associated with an anterior abdominal wall defect: a case report
BACKGROUND: Sirenomelia is a rare and fatal congenital defect. The rarity of this case and its association with abdominal total wall defect drove us to report this case. CASE PRESENTATION: We report a rare case of sirenomelia characterized by lower limb fusion, thoracolumbar spinal anomalies, sacroc...
Autores principales: | , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2019
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6626367/ https://www.ncbi.nlm.nih.gov/pubmed/31300067 http://dx.doi.org/10.1186/s13256-019-2162-0 |
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author | Kavunga, Eric Kambale Bunduki, Gabriel Kambale Mumbere, Mupenzi Masumbuko, Claude Kasereka |
author_facet | Kavunga, Eric Kambale Bunduki, Gabriel Kambale Mumbere, Mupenzi Masumbuko, Claude Kasereka |
author_sort | Kavunga, Eric Kambale |
collection | PubMed |
description | BACKGROUND: Sirenomelia is a rare and fatal congenital defect. The rarity of this case and its association with abdominal total wall defect drove us to report this case. CASE PRESENTATION: We report a rare case of sirenomelia characterized by lower limb fusion, thoracolumbar spinal anomalies, sacrococcygeal agenesis with a rudimentary tail, and genitourinary and anorectal atresia. Coexistent anterior abdominal wall defect in this case highlights its fatalness because of complications associated with the malformation. CONCLUSIONS: Sirenomelia syndrome has seldom been reported. The present case highlights the rare atypical association of sirenomelia with anterior abdominal wall defect. Because the investigations were done in a low-resource setting, the etiology regarding this case remains unclear. |
format | Online Article Text |
id | pubmed-6626367 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2019 |
publisher | BioMed Central |
record_format | MEDLINE/PubMed |
spelling | pubmed-66263672019-07-23 Sirenomelia associated with an anterior abdominal wall defect: a case report Kavunga, Eric Kambale Bunduki, Gabriel Kambale Mumbere, Mupenzi Masumbuko, Claude Kasereka J Med Case Rep Case Report BACKGROUND: Sirenomelia is a rare and fatal congenital defect. The rarity of this case and its association with abdominal total wall defect drove us to report this case. CASE PRESENTATION: We report a rare case of sirenomelia characterized by lower limb fusion, thoracolumbar spinal anomalies, sacrococcygeal agenesis with a rudimentary tail, and genitourinary and anorectal atresia. Coexistent anterior abdominal wall defect in this case highlights its fatalness because of complications associated with the malformation. CONCLUSIONS: Sirenomelia syndrome has seldom been reported. The present case highlights the rare atypical association of sirenomelia with anterior abdominal wall defect. Because the investigations were done in a low-resource setting, the etiology regarding this case remains unclear. BioMed Central 2019-07-13 /pmc/articles/PMC6626367/ /pubmed/31300067 http://dx.doi.org/10.1186/s13256-019-2162-0 Text en © The Author(s). 2019 Open AccessThis article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated. |
spellingShingle | Case Report Kavunga, Eric Kambale Bunduki, Gabriel Kambale Mumbere, Mupenzi Masumbuko, Claude Kasereka Sirenomelia associated with an anterior abdominal wall defect: a case report |
title | Sirenomelia associated with an anterior abdominal wall defect: a case report |
title_full | Sirenomelia associated with an anterior abdominal wall defect: a case report |
title_fullStr | Sirenomelia associated with an anterior abdominal wall defect: a case report |
title_full_unstemmed | Sirenomelia associated with an anterior abdominal wall defect: a case report |
title_short | Sirenomelia associated with an anterior abdominal wall defect: a case report |
title_sort | sirenomelia associated with an anterior abdominal wall defect: a case report |
topic | Case Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6626367/ https://www.ncbi.nlm.nih.gov/pubmed/31300067 http://dx.doi.org/10.1186/s13256-019-2162-0 |
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