ArticlePloS one2012
Sirenomelia phenotype in bmp7;shh compound mutants: a novel experimental model for studies of caudal body malformations.
Article in PloS one, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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14 citing papers in PubMed, 23 citations in OpenAlex.
- Whole-genome resequencing with multidimensional annotation revealed pathogenic networks in sirenomelia.Italian journal of pediatrics · 2026Article
- The cloacal outgrowth orchestrates co-development of the bladder and umbilical arteries.Development (Cambridge, England) · 2026Article
- Sirenomelia: A Review of European Prevalence Data and Epidemiological Analysis of 17 Cases Registered in Wales.Birth defects research · 2026Article
- Sirenomelia in Twin IVF Pregnancy: A Rare Case Report.Clinical case reports · 2025Article
- Sirenomelia or mermaid syndrome with a cleft lip in a Tanzanian newborn: a case report.Journal of medical case reports · 2024Article
- Tgfbr1 controls developmental plasticity between the hindlimb and external genitalia by remodeling their regulatory landscape.Nature communications · 2024Article
- What is your diagnosis?Journal of the Turkish German Gynecological Association · 2022Article
- The mouse allantois: new insights at the embryonic-extraembryonic interface.Philosophical transactions of the Royal Society of London. Series B, Biological sciences · 2022Review
- Successful Expectant Management of the Anomalous Fetus with Sirenomelia in Twin Pregnancy: A Case Report and Literature Review.International medical case reports journal · 2021Article
- Review
- Brachyury drives formation of a distinct vascular branchpoint critical for fetal-placental arterial union in the mouse gastrula.Developmental biology · 2017Article
- Systematic stereoscopic analyses for cloacal development: The origin of anorectal malformations.Scientific reports · 2015Article
- Disruption of the temporally regulated cloaca endodermal β-catenin signaling causes anorectal malformations.Cell death and differentiation · 2014Article
- [Sirenomelia (Mermaid syndrome): description of the first Congolese cases and review of the literature].The Pan African medical journal · 2014Review
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Authors and funding
3 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Sirenomelia is a severe congenital malformation of the lower body characterized by the fusion of the legs into a single lower limb. This striking external phenotype consistently associates severe visceral abnormalities, most commonly of the kidneys, intestine, and genitalia that generally make the condition lethal. Although the causes of sirenomelia remain unknown, clinical studies have yielded two major hypotheses: i) a primary defect in the generation of caudal mesoderm, ii) a primary vascular defect that leaves the caudal part of the embryo hypoperfused. Interestingly, Sirenomelia has been shown to have a genetic basis in mice, and although it has been considered a sporadic condition in humans, recently some possible familial cases have been reported. Here, we report that the removal of one or both functional alleles of Shh from the Bmp7-null background leads to a sirenomelia phenotype that faithfully replicates the constellation of external and internal malformations, typical of the human condition. These mutants represent an invaluable model in which we have analyzed the pathogenesis of sirenomelia. We show that the signaling defect predominantly impacts the morphogenesis of the hindgut and the development of the caudal end of the dorsal aortas. The deficient formation of ventral midline structures, including the interlimb mesoderm caudal to the umbilicus, leads to the approximation and merging of the hindlimb fields. Our study provides new insights for the understanding of the mechanisms resulting in caudal body malformations, including sirenomelia.
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