Nonrandom association of anomalies involving multiple organ systems (except brain)
Vertebral/vascular
Anal atresia/auricular
Cardiac
Tracheoesophageal fistula (TEF)
Esophageal atresia (EA)
Renal/radial/rib
Limb
VACTERL association is typically diagnosed when ≥ 3 malformations are present
Clubfoot & hip dysplasia are excluded if no other limb anomalies are present
No clinical or laboratory evidence of alternative diagnosis
IMAGING
General Features
Radiographic Findings
Ultrasonographic Findings
Imaging Recommendations
DIFFERENTIAL DIAGNOSIS
PATHOLOGY
General Features
Staging, Grading, & Classification
CLINICAL ISSUES
Presentation
Demographics
Natural History & Prognosis
Treatment
DIAGNOSTIC CHECKLIST
Image Interpretation Pearls
Selected References
van de Putte R et al: Maternal risk factors for the VACTERL association: a EUROCAT case-control study. Birth Defects Res. 112(9):688-98, 2020
Lubinsky M: The VACTERL association: mosaic mitotic aneuploidy as a cause and a model. J Assist Reprod Genet. 36(8):1549-54, 2019
Solomon BD: The etiology of VACTERL association: current knowledge and hypotheses. Am J Med Genet C Semin Med Genet. 178(4):440-6, 2018
Debost-Legrand A et al: Prenatal diagnosis of the VACTERL association using routine ultrasound examination. Birth Defects Res A Clin Mol Teratol. 103(10):880-6, 2015
Solomon BD et al: An approach to the identification of anomalies and etiologies in neonates with identified or suspected VACTERL (vertebral defects, anal atresia, tracheo-esophageal fistula with esophageal atresia, cardiac anomalies, renal anomalies, and limb anomalies) association. J Pediatr. 164(3):451-7.e1, 2014
Aguinaga M et al: Sonic hedgehog mutation analysis in patients with VACTERL association. Am J Med Genet A. 152A(3):781-3, 2010
O'Neill BR et al: Prevalence of tethered spinal cord in infants with VACTERL. J Neurosurg Pediatr. 6(2):177-82, 2010
Solomon BD et al: Analysis of component findings in 79 patients diagnosed with VACTERL association. Am J Med Genet A. 152A(9):2236-44, 2010
Castori M et al: Tibial developmental field defect is the most common lower limb malformation pattern in VACTERL association. Am J Med Genet A. 146A(10):1259-66, 2008
Komura M et al: A female infant who had both complete VACTERL association and MURCS association: report of a case. Surg Today. 37(10):878-80, 2007
Maschke SD et al: Radial longitudinal deficiency. J Am Acad Orthop Surg. 15(1):41-52, 2007
Ratan SK et al: A neonate with anorectal malformation with rare limb defects report of a case. Pediatr Surg Int. 21(10):825-8, 2005
Haller JO et al: Tracheoesophageal fistula (H-type) in neonates with imperforate anus and the VATER association. Pediatr Radiol. 34(1):83-5, 2004
Wattanasirichaigoon D et al: Rib defects in patterns of multiple malformations: a retrospective review and phenotypic analysis of 47 cases. Am J Med Genet. 122A(1):63-9, 2003
Evans JA et al: Tibial agenesis with radial ray and cardiovascular defects. Clin Dysmorphol. 11(3):163-9, 2002
Spruijt L et al: VATER--tibia aplasia association: report on two patients. Clin Dysmorphol. 11(4):283-7, 2002
Wales PW et al: Horseshoe lung in association with other foregut anomalies: what is the significance? J Pediatr Surg. 37(8):1205-7, 2002
Kallen K et al: VATER non-random association of congenital malformations: study based on data from four malformation registers. Am J Med Genet. 101(1):26-32, 2001
Rittler M et al: VACTERL association, epidemiologic definition and delineation. Am J Med Genet. 63(4):529-36, 1996
Torfs CP et al: Population-based study of tracheoesophageal fistula and esophageal atresia. Teratology. 52(4):220-32, 1995
James HE et al: Distal spinal cord pathology in the VATER association. J Pediatr Surg. 29(11):1501-3, 1994
Corsello G et al: VATER/VACTERL association: clinical variability and expanding phenotype including laryngeal stenosis. Am J Med Genet. 44(6):813-5, 1992
Levine F et al: VACTERL association with high prenatal lead exposure: similarities to animal models of lead teratogenicity. Pediatrics. 87(3):390-2, 1991
Fernbach SK et al: The expanded spectrum of limb anomalies in the VATER association. Pediatr Radiol. 18(3):215-20, 1988
Nonrandom association of anomalies involving multiple organ systems (except brain)
Vertebral/vascular
Anal atresia/auricular
Cardiac
Tracheoesophageal fistula (TEF)
Esophageal atresia (EA)
Renal/radial/rib
Limb
VACTERL association is typically diagnosed when ≥ 3 malformations are present
Clubfoot & hip dysplasia are excluded if no other limb anomalies are present
No clinical or laboratory evidence of alternative diagnosis
IMAGING
General Features
Radiographic Findings
Ultrasonographic Findings
Imaging Recommendations
DIFFERENTIAL DIAGNOSIS
PATHOLOGY
General Features
Staging, Grading, & Classification
CLINICAL ISSUES
Presentation
Demographics
Natural History & Prognosis
Treatment
DIAGNOSTIC CHECKLIST
Image Interpretation Pearls
Selected References
van de Putte R et al: Maternal risk factors for the VACTERL association: a EUROCAT case-control study. Birth Defects Res. 112(9):688-98, 2020
Lubinsky M: The VACTERL association: mosaic mitotic aneuploidy as a cause and a model. J Assist Reprod Genet. 36(8):1549-54, 2019
Solomon BD: The etiology of VACTERL association: current knowledge and hypotheses. Am J Med Genet C Semin Med Genet. 178(4):440-6, 2018
Debost-Legrand A et al: Prenatal diagnosis of the VACTERL association using routine ultrasound examination. Birth Defects Res A Clin Mol Teratol. 103(10):880-6, 2015
Solomon BD et al: An approach to the identification of anomalies and etiologies in neonates with identified or suspected VACTERL (vertebral defects, anal atresia, tracheo-esophageal fistula with esophageal atresia, cardiac anomalies, renal anomalies, and limb anomalies) association. J Pediatr. 164(3):451-7.e1, 2014
Aguinaga M et al: Sonic hedgehog mutation analysis in patients with VACTERL association. Am J Med Genet A. 152A(3):781-3, 2010
O'Neill BR et al: Prevalence of tethered spinal cord in infants with VACTERL. J Neurosurg Pediatr. 6(2):177-82, 2010
Solomon BD et al: Analysis of component findings in 79 patients diagnosed with VACTERL association. Am J Med Genet A. 152A(9):2236-44, 2010
Castori M et al: Tibial developmental field defect is the most common lower limb malformation pattern in VACTERL association. Am J Med Genet A. 146A(10):1259-66, 2008
Komura M et al: A female infant who had both complete VACTERL association and MURCS association: report of a case. Surg Today. 37(10):878-80, 2007
Maschke SD et al: Radial longitudinal deficiency. J Am Acad Orthop Surg. 15(1):41-52, 2007
Ratan SK et al: A neonate with anorectal malformation with rare limb defects report of a case. Pediatr Surg Int. 21(10):825-8, 2005
Haller JO et al: Tracheoesophageal fistula (H-type) in neonates with imperforate anus and the VATER association. Pediatr Radiol. 34(1):83-5, 2004
Wattanasirichaigoon D et al: Rib defects in patterns of multiple malformations: a retrospective review and phenotypic analysis of 47 cases. Am J Med Genet. 122A(1):63-9, 2003
Evans JA et al: Tibial agenesis with radial ray and cardiovascular defects. Clin Dysmorphol. 11(3):163-9, 2002
Spruijt L et al: VATER--tibia aplasia association: report on two patients. Clin Dysmorphol. 11(4):283-7, 2002
Wales PW et al: Horseshoe lung in association with other foregut anomalies: what is the significance? J Pediatr Surg. 37(8):1205-7, 2002
Kallen K et al: VATER non-random association of congenital malformations: study based on data from four malformation registers. Am J Med Genet. 101(1):26-32, 2001
Rittler M et al: VACTERL association, epidemiologic definition and delineation. Am J Med Genet. 63(4):529-36, 1996
Torfs CP et al: Population-based study of tracheoesophageal fistula and esophageal atresia. Teratology. 52(4):220-32, 1995
James HE et al: Distal spinal cord pathology in the VATER association. J Pediatr Surg. 29(11):1501-3, 1994
Corsello G et al: VATER/VACTERL association: clinical variability and expanding phenotype including laryngeal stenosis. Am J Med Genet. 44(6):813-5, 1992
Levine F et al: VACTERL association with high prenatal lead exposure: similarities to animal models of lead teratogenicity. Pediatrics. 87(3):390-2, 1991
Fernbach SK et al: The expanded spectrum of limb anomalies in the VATER association. Pediatr Radiol. 18(3):215-20, 1988
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