ReviewDisease models & mechanisms2011
A clinical and experimental overview of sirenomelia: insight into the mechanisms of congenital limb malformations.
Review in Disease models & mechanisms, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 38 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
38 citing papers in PubMed, 110 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 Sympus Dipus: Autopsy Case Report of a Second-Trimester Fetus With Multiple Congenital Anomalies.Cureus · 2026Article
- A study on the diagnostic value and classification of sirenomelia by prenatal ultrasonography.BMC pregnancy and childbirth · 2026Article
- Article
- Sirenomelia with alveolar capillary dysplasia: An unusual association.Medical journal, Armed Forces India · 2024Article
- Clinical and radiological evaluation of caudal regression syndrome.Pediatric radiology · 2024Review
- Sirenomelia or mermaid syndrome with a cleft lip in a Tanzanian newborn: a case report.Journal of medical case reports · 2024Article
- Defective blastogenesis of postnatally diagnosed type VI sirenomelia in a young primigravida: A case report.SAGE open medical case reports · 2024Article
- Prenatal sirenomelia diagnosis in the first trimester: A case report and literature review.Clinical case reports · 2023Article
- Sirenomelia in Twin Pregnancy: A Case Report.Cureus · 2023Article
- Antenatal diagnosis of sympus dipus by MRI.European journal of obstetrics & gynecology and reproductive biology: X · 2023Article
- Article
- Mermaid syndrome: A case report in Somalia.Annals of medicine and surgery (2012) · 2022Article
- The broader phenotypic spectrum of congenital caudal abnormalities associated with mutations in the caudal type homeobox 2 gene.Clinical genetics · 2022Article
- Craniopagus parasiticus: successful separation of a 28-week preterm newborn from parasite sibling twin bearing lethal congenital anomalies associated to Cantrell's pentad and sirenomelia-case-based review of the literature.Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2021Review
- Sirenomelia: two case reports.Journal of medical case reports · 2021Article
- Caudal Regression Syndrome.Children (Basel, Switzerland) · 2020Article
- Sirenomelia (Mermaid Syndrome): A Case Report.Turk patoloji dergisi · 2020Article
- Sirenomelia (mermaid syndrome): a rare congenital disorder.BMJ case reports · 2019Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
6 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Sirenomelia, also known as sirenomelia sequence, is a severe malformation of the lower body characterized by fusion of the legs and a variable combination of visceral abnormalities. The causes of this malformation remain unknown, although the discovery that it can have a genetic basis in mice represents an important step towards the understanding of its pathogenesis. Sirenomelia occurs in mice lacking Cyp26a1, an enzyme that degrades retinoic acid (RA), and in mice that develop with reduced bone morphogenetic protein (Bmp) signaling in the caudal embryonic region. The phenotypes of these mutant mice suggest that sirenomelia in humans is associated with an excess of RA signaling and a deficit in Bmp signaling in the caudal body. Clinical studies of sirenomelia have given rise to two main pathogenic hypotheses. The first hypothesis, based on the aberrant abdominal and umbilical vascular pattern of affected individuals, postulates a primary vascular defect that leaves the caudal part of the embryo hypoperfused. The second hypothesis, based on the overall malformation of the caudal body, postulates a primary defect in the generation of the mesoderm. This review gathers experimental and clinical information on sirenomelia together with the necessary background to understand how deviations from normal development of the caudal part of the embryo might lead to this multisystemic malformation.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.