Subscribe to RSS
VACTERL association – Ultrasound findings and autopsy correlation
Subject Editor: Financial support and sponsorship Nil.
VACTERL (vertebral, anal, cardiac, tracheoesophagus, renal, and limbs) is an abbreviation for the congenital group of abnormalities, including vertebral or vascular anomalies, anal atresia, cardiac defects, tracheoesophageal – fistula/esophageal atresia, renal defects, and limbs defects. It is a rare association and not accidental event where several organs are affected by developmental defects during blastogenesis. The exact cause is unknown; however, several environmental and genetic factors are included in literature. Three components out of seven are used to label as VACTERL. The combination is necessary, but the patient may have other congenital malformations as well. We present here an antenatal scan with autopsy correlation of one of the forms of VACTERL association spectrum.
KeywordsDiagnosis of exclusion - VATER - vertebral, anal, cardiac, tracheoesophagus, renal, and limbs
26 July 2021 (online)
© 2018. Indian Radiological Association. This is an open access article published by Thieme under the terms of the Creative Commons Attribution-NonDerivative-NonCommercial-License, permitting copying and reproduction so long as the original work is given appropriate credit. Contents may not be used for commercial purposes, or adapted, remixed, transformed or built upon. (https://creativecommons.org/licenses/by-nc-nd/4.0/).
Thieme Medical and Scientific Publishers Private Ltd.
A-12, Second Floor, Sector -2, NOIDA -201301, India
- 1 Botto LD, Khoury MJ, Mastroiacovo P, Castilla EE, Moore CA, Skjaerven R. et al. The spectrum of congenital anomalies of the VATER association: An international study. Am J Med Genet 1997; 71: 8-15
- 2 Quan L, Smith DW. The VATER association. Vertebral defects, Anal atresia, T-E fistula with esophageal atresia, Radial and Renal dysplasia: A spectrum of associated defects. J Pediatr 1973; 82: 104-7
- 3 Temtamy SA, Miller JD. Extending the scope of the VATER association: Definition of the VATER syndrome. J Pediatr 1974; 85: 345-9
- 4 Chen Y, Liu Z, Chen J, Zuo Y, Liu S, Chen W. et al. The genetic landscape and clinical implications of vertebral anomalies in VACTERL association. J Med Genet 2016; 53: 431-7
- 5 Cevik MO, Celik M, Bucak IH, Almis BH, Turgut M. Possible relation of antenatal venlafaxine Use and VACTERL association in a Newborn: A case report. Turkish J Psychiatr 2017; 28
- 6 Vertebral defect, anal atresia, cardiac defect, tracheoesophageal fistula/esophageal atresia, renal defect, and limb defect association with Mayer Rokitansky-Küster-Hauser syndrome in cooccurrence: Two case reports and a review of the literature. J Med Case Rep 2016; 10: 374
- 7 Källén K, Mastroiacovo P, Castilla EE, Robert E, Källén B. VATER non-random association of congenital malformations: Study based on data from four malformation registers. Am J Med Genet 2001; 101: 26-32
- 8 Ramosa JA, Shashank S, Shettarb SS, James CF. Neuraxial analgesia in a parturient with the VACTERL association undergoing labor and vaginal delivery. Rev Bras Anestesiol 2016; 343-9
- 9 Reddy AKV, Soren C. VACTERL association in a newborn – A rare case report. IOSR J Dental Med Sci 2017; 16: 31-3
- 10 De Falco F, Cainarca S, Andolfi G, Ferrentino R, Berti C, Rodríguez Criado G. et al. X-linked Opitz syndrome: Novel mutations in the MID1 gene and redefinition of the clinical spectrum. Am J Med Genet 2003; 120A: 222-8
- 11 Murphy-Kaulbeck L, Dodds L, Joseph KS, Van den Hof M. Single umbilical artery risk factors and pregnancy outcomes. Obstet Gynecol. 2010; 116: 843-50
- 12 Zhao X, Sun M, Zhao J, Leyva JA, Zhu H, Yang W. et al. Mutations in HOXD13 underlie syndactyly type V and a novel brachydactyly-syndactyly syndrome. Am J Hum Genet 2007; 80: 361-71
- 13 Gebbia M, Ferrero GB, Pilia G, Bassi MT, Aylsworth A, Penman-Splitt M. et al. X-linked situs abnormalities result from mutations in ZIC3. Nat Genet 1997; 17: 305-8
- 14 Solomon BD, Patel A, Cheung SW, Pineda-Alvarez DE. VACTERL association and mitochondrial dysfunction. Birth Defects Res A Clin Mol Teratol (In press)
- 15 Kohlhase J, Wischermann A, Reichenbach H, Froster U, Engel W. Mutations in the SALL1 putative transcription factor gene cause Townes-Brocks syndrome. Nat Genet 1998; 18: 81-3
- 16 Weaver DD, Mapstone CL, Yu PL. The VATER association: Analysis of 46 patients. Am J Dis of Child 1986; 140: 225-9
- 17 McCauley J, Masand N, McGowan R, Rajagopalan S, Hunter A, Michaud JL. et al. X-linked VACTERL with hydrocephalus syndrome: Further delineation of the phenotype caused by FANCB mutations. Am J Med Genet Part A 2011; 155: 2370-80
- 18 Dusmet M, Fete F, Crusi A, Cox JN. VATER association: Report of a case with three unreported malformations. J Med Genet 1988; 25: 57-60