ArticleRadiology case reports2020
Caudal regression syndrome (Currarino syndrome) with chromosom mutation 9.
Article in Radiology case reports, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 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
5 citing papers in PubMed, 8 citations in OpenAlex.
- Atypical caudal regression syndrome with lumbar agenesis, hypoplastic sacrum without sacroiliac joints in the eastern Democratic Republic of Congo: a case report.Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2023Article
- The clinical value of prenatal ultrasound in the diagnosis of caudal regression syndrome.American journal of translational research · 2023Article
- Case report: Sacral agenesis in two boxer dogs: clinical presentation, diagnostic investigations, and outcome.Frontiers in veterinary science · 2023Article
- A Semi-quantitative Evaluation of Out-to-Out Agenesis of Posterior Wall in a Dry Human Sacrum in Bangladesh.Cureus · 2022Article
- Currarino syndrome: a comprehensive genetic review of a rare congenital disorder.Orphanet journal of rare diseases · 2021Review
Corrections and comments
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Authors and funding
3 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Currarino syndrome is a rare set of congenital anomalies that include partial sacral agenesis, anorectal anomalies, presacral mass, urogenital malformation, and fistula between pelvic structures. We present a case of a 4-year and 10-month-old boy with incomplete Currarino syndrome, who was born with anus atresia, rectovesical fistula, and permanent perimembranous VSD. At the age of 3, he was diagnosed with neurogenic bladder and sacrococcygeal agenesis. Early psychomotor development was normal. Cytogenetic GTG-banding test confirmed a male karyotype 46, XY with high heterochromatin in chromosome 9, without mutation of the MNX 1 gene (chromosome 7q36). This genetic analysis is a result of "de novo mutation" or it is the disorder of DNA methylation. Further genetics analyses like whole-exome sequencing - WES should have been preformed if the test had been availble. The existence of Currarino syndrome should be suspected among the children born with anorectal malformation. Prompt diagnosis with multidisciplinary monitoring improves the care and quality of life of the patient, reduces morbidity and mortality.
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Registered trials
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