ReviewPediatric surgery international2013
Associations of anorectal malformations and related syndromes.
Review in Pediatric surgery international, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.
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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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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
19 citing papers in PubMed, 48 citations in OpenAlex.
- Anaesthetic Management of CHARGE Syndrome with Anorectal Malformation in an Infant: A Case Report.Turkish journal of anaesthesiology and reanimation · 2026Article
- Distinct genetic variants from the whole-exome sequencing of syndromic anorectal malformations: A cross-sectional study.iScience · 2026Article
- 1q21.1 Duplication Syndrome and Anorectal Malformations: A Literature Review and a New Case.Current issues in molecular biology · 2025Article
- Anorectal malformations.Nature reviews. Disease primers · 2024Review
- Spatial transcriptomics reveals gene interactions and signaling pathway dynamics in rat embryos with anorectal malformation.Cell biology and toxicology · 2024Article
- State of the Art Bowel Management for Pediatric Colorectal Problems: Anorectal Malformations.Children (Basel, Switzerland) · 2023Review
- High molecular diagnostic yields and novel phenotypic expansions involving syndromic anorectal malformations.European journal of human genetics : EJHG · 2023Article
- Review
- Imperforate Anus and Rectourethral Fistula in a Female.European journal of pediatric surgery reports · 2019Article
- A review of genetic factors contributing to the etiopathogenesis of anorectal malformations.Pediatric surgery international · 2018Review
- Improving the rigour of VACTERL screening for neonates with anorectal malformations.Pediatric surgery international · 2017Article
- Outcome of Laparoscopic Treatment of Anorectal Malformations in Children.World journal of surgery · 2017Article
- Syndromic anorectal malformation associated with Holt-Oram syndrome, microcephaly, and bilateral corneal opacity: a case report.Journal of medical case reports · 2016Article
- [Risk factors for congenital anal atresia].Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2016Article
- Anorectal malformation: the etiological factors.Pediatric surgery international · 2015Review
- Unusual presentation of a rectovestibular fistula as gastrointestinal hemorrhage in a postmenopausal woman.Case reports in obstetrics and gynecology · 2014Article
- Anorectal Malformations in Male Monozygotic Twins and Review of Literature.Journal of Indian Association of Pediatric SurgeonsArticle
- Rare Association of Isolated Microphthalmia with Anorectal Malformation.Journal of Indian Association of Pediatric SurgeonsArticle
- Missing Links Between Genetically Inherited Molecules in Split Cord Malformation and Other Anomaly: A Bench to Bedside Approach.Journal of pediatric neurosciencesArticle
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
1 author at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Anorectal malformations (ARMs) represent a complex group of congenital anomalies resulting from abnormal development of the hindgut, allantois and Mullerian duct resulting in complete or partial urorectal septal malformations. There is a wide variety of phenotypic expression, ranging from mild anorectal to very complex severe ARM with >75 % having other associated malformations. 50 % of cases are syndromic although many may have other associated anomalies. This suggests a genetic link but the genetics of ARM are highly complex with a number of candidate genes being identified. Many can be classified as "field defects" as a result of a complex set of genetic interactions. Patients with associated malformations can be classified into those with multiple congenital anomalies (non-syndromic), those with chromosomal abnormalities and those with non-chromosomal syndromic associations, also, those with non-chromosomal syndromes and the influence of environmental factors (e.g. drugs in pregnancy). Although much is not known about the aetiology of ARM, the weight of evidence points to genetic factors as major causes for the condition. In this review, we look at the chromosomal and genetic associations and their underlying signalling pathways, to obtain a better understanding of the pathogenetic mechanisms involved in developing ARM. The spectrum of ARM phenotypic expression probably results from involvement and crosstalk between a number of critical signalling systems involved in development of this region. As a result, it may be expressed as a "field developmental defect" with many associated abnormalities. The role of environmental factors in the development of ARM is probably less.
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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.