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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...

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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
Descripción
Sumario: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.