Cargando…

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...

Descripción completa

Detalles Bibliográficos
Autores principales: Kavunga, Eric Kambale, Bunduki, Gabriel Kambale, Mumbere, Mupenzi, Masumbuko, Claude Kasereka
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2019
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
_version_ 1783434562275115008
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
work_keys_str_mv AT kavungaerickambale sirenomeliaassociatedwithananteriorabdominalwalldefectacasereport
AT bundukigabrielkambale sirenomeliaassociatedwithananteriorabdominalwalldefectacasereport
AT mumberemupenzi sirenomeliaassociatedwithananteriorabdominalwalldefectacasereport
AT masumbukoclaudekasereka sirenomeliaassociatedwithananteriorabdominalwalldefectacasereport