Citation, DOI, disclosures and article data
Citation:
Savi F, Elfeky M, Laique K, et al. VACTERL association. Reference article, Radiopaedia.org (Accessed on 18 Feb 2025) https://doi.org/10.53347/rID-2249
VACTERL is an acronym that describes a non-random constellation of congenital anomalies. It is not a true syndrome as such and is equivalent to the VATER anomaly.
Epidemiology
The estimated incidence is 1 in 10,000-40,000 births 3.
Associations
Several conditions have features in common with VACTERL including 9:
Pathology
The acronym VACTERL derives from:
At least three of the above features (in each category) are considered necessary for the diagnosis of this condition 1,3.
The association does not include cranial/CNS anomalies. If there is accompanying hydrocephalus, the term VACTERL-H is used by some authors 3.
Genetics
The vast majority of VACTERL associations are thought to have a sporadic occurrence with occasional autosomal recessive forms. There is no known underlying genetic defect 8.
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1. Entezami M, Albig M, Knoll U et-al. Ultrasound Diagnosis of Fetal Anomalies. Thieme. (2003) ISBN:1588902129. Read it at Google Books - Find it at Amazon
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2. Krüger G, Külz T, Dunker H et-al. VACTERL-association: an unusual case of fetus detected by ultrasound screening at 19 weeks of gestation. Eur. J. Pediatr. 1990;149 (11): 809. - Pubmed citation
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3. Solomon BD. VACTERL/VATER Association. 2011;6 (1): 56. doi:10.1186/1750-1172-6-56 - Pubmed citation
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4. Merz E, Bahlmann F. Ultrasound in obstetrics and gynecology. Thieme Medical Publishers. (2005) ISBN:1588901475. Read it at Google Books - Find it at Amazon
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5. Raam MS, Pineda-alvarez DE, Hadley DW et-al. Long-term outcomes of adults with features of VACTERL association. Eur J Med Genet. 54 (1): 34-41. doi:10.1016/j.ejmg.2010.09.007 - Free text at pubmed - Pubmed citation
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7. Bartels E, Schulz AC, Mora NW et-al. VATER/VACTERL association: identification of seven new twin pairs, a systematic review of the literature, and a classical twin analysis. Clin. Dysmorphol. 2012;21 (4): 191-5. doi:10.1097/MCD.0b013e328358243c - Pubmed citation
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8. Daryl A Scott. Esophageal Atresia / Tracheoesophageal Fistula Overview – RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY. University of Washington, Seattle. 2018. https://www.ncbi.nlm.nih.gov/books/NBK5192/ - Pubmed
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9. Solomon B. VACTERL/VATER Association. Orphanet J Rare Dis. 2011;6(1):56. doi:10.1186/1750-1172-6-56 - Pubmed
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