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

doi:10.1016/j.jpeds.2013.10.086

Review

. 2014 Mar;164(3):451-7.e1.

doi: 10.1016/j.jpeds.2013.10.086. Epub 2013 Dec 12.

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

Affiliations

¹ Division of Medical Genomics, Inova Translational Medicine Institute, Falls Church, VA; Department of Pediatrics, Inova Children's Hospital, Falls Church, VA; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD. Electronic address: benjamin.solomon@inova.org.
² Department of Urology, Eugene McDermott Center for Human Growth and Development, University of Texas-Southwestern, Dallas, TX.
³ Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD; Department of Pediatrics, Walter Reed National Military Medical Center-Bethesda, MD.
⁴ Department of Pediatrics, University of Wisconsin-Madison, Madison, WI.
⁵ Laboratory of Immunoregulation, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD.
⁶ Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD.
⁷ Department of Pediatric Surgery/Colorectal Center for Children, Cincinnati Children's Hospital, Medical Center, Cincinnati, OH.
⁸ Department of Neonatology, Children's National Medical Center, Washington, DC.
⁹ Rehabilitation Medicine Department, National Institutes of Health, Bethesda, MD.
¹⁰ Department of Pediatric Orthopedics, Hospital for Special Surgery, New York, NY.
¹¹ Institute for Human Genetics, University of Bonn, Bonn, Germany; Department of Neonatology, Children's Hospital, University of Bonn, Bonn, Germany.

PMID: 24332453
PMCID: PMC3943871
DOI: 10.1016/j.jpeds.2013.10.086

Review

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

Benjamin D Solomon et al. J Pediatr. 2014 Mar.

. 2014 Mar;164(3):451-7.e1.

doi: 10.1016/j.jpeds.2013.10.086. Epub 2013 Dec 12.

Authors

Affiliations

¹ Division of Medical Genomics, Inova Translational Medicine Institute, Falls Church, VA; Department of Pediatrics, Inova Children's Hospital, Falls Church, VA; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD. Electronic address: benjamin.solomon@inova.org.
² Department of Urology, Eugene McDermott Center for Human Growth and Development, University of Texas-Southwestern, Dallas, TX.
³ Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD; Department of Pediatrics, Walter Reed National Military Medical Center-Bethesda, MD.
⁴ Department of Pediatrics, University of Wisconsin-Madison, Madison, WI.
⁵ Laboratory of Immunoregulation, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD.
⁶ Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD.
⁷ Department of Pediatric Surgery/Colorectal Center for Children, Cincinnati Children's Hospital, Medical Center, Cincinnati, OH.
⁸ Department of Neonatology, Children's National Medical Center, Washington, DC.
⁹ Rehabilitation Medicine Department, National Institutes of Health, Bethesda, MD.
¹⁰ Department of Pediatric Orthopedics, Hospital for Special Surgery, New York, NY.
¹¹ Institute for Human Genetics, University of Bonn, Bonn, Germany; Department of Neonatology, Children's Hospital, University of Bonn, Bonn, Germany.

PMID: 24332453
PMCID: PMC3943871
DOI: 10.1016/j.jpeds.2013.10.086

No abstract available

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Conflict of interest statement

The authors declare no conflicts of interest.

Figures

**Figure 1**
Examples of findings in VACTERL association. The images in the circles represent radiological examples of findings. Vertebral anomalies: 3-D CT reconstruction showing thoracic segmentation anomalies; Anorectal malformations: contrast imaging showing a rectoprostatic urethral fistula in a patient with an anorectal malformation; Cardiac anomalies: chest x-ray showing a midline heart in a patient with situs anomalies as part of VACTERL association; Tracheo-esophageal anomalies: x-ray showing the position of feeding tube placement (arrow) due to a tracheal pouch; Renal anomalies: axial view from an abdominal CT showing a horseshoe kidney; Limb anomalies: skeletal anomalies affecting the right radius, wrist, and thumb; Examples of other findings: axial view from a brain MRI showing hydrocephalus (due to aqueductal stenosis) Abbreviations: 3-D: three-dimensional; CT: computed tomography; GI: Gastrointestinal

**Figure 2**
Graphical representation of suggested algorithm for neonates affected with VACTERL association.

See this image and copyright information in PMC

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References

1. 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. - PubMed
1. Temtamy SA, Miller JD. Extending the scope of the VATER association: definition of the VATER syndrome. J Pediatr. 1974;85:345–9. - PubMed
1. Khoury MJ, Cordero JF, Greenberg F, James LM, Erickson JD. A population study of the VACTERL association: evidence for its etiologic heterogeneity. Pediatrics. 1983;71:815–20. - PubMed
1. Rittler M, Paz JE, Castilla EE. VACTERL association, epidemiologic definition and delineation. Am J Med Genet. 1996;63:529–36. - PubMed
1. Kallen K, Mastroiacovo P, Castilla EE, Robert E, Kallen B. VATER non-random association of congenital malformations: study based on data from four malformation registers. Am J Med Genet. 2001;101:26–32. - PubMed

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[1] 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. - PubMed

[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. - PubMed

[3] Temtamy SA, Miller JD. Extending the scope of the VATER association: definition of the VATER syndrome. J Pediatr. 1974;85:345–9. - PubMed

[4] Temtamy SA, Miller JD. Extending the scope of the VATER association: definition of the VATER syndrome. J Pediatr. 1974;85:345–9. - PubMed

[5] Khoury MJ, Cordero JF, Greenberg F, James LM, Erickson JD. A population study of the VACTERL association: evidence for its etiologic heterogeneity. Pediatrics. 1983;71:815–20. - PubMed

[6] Khoury MJ, Cordero JF, Greenberg F, James LM, Erickson JD. A population study of the VACTERL association: evidence for its etiologic heterogeneity. Pediatrics. 1983;71:815–20. - PubMed

[7] Rittler M, Paz JE, Castilla EE. VACTERL association, epidemiologic definition and delineation. Am J Med Genet. 1996;63:529–36. - PubMed

[8] Rittler M, Paz JE, Castilla EE. VACTERL association, epidemiologic definition and delineation. Am J Med Genet. 1996;63:529–36. - PubMed

[9] Kallen K, Mastroiacovo P, Castilla EE, Robert E, Kallen B. VATER non-random association of congenital malformations: study based on data from four malformation registers. Am J Med Genet. 2001;101:26–32. - PubMed

[10] Kallen K, Mastroiacovo P, Castilla EE, Robert E, Kallen B. VATER non-random association of congenital malformations: study based on data from four malformation registers. Am J Med Genet. 2001;101:26–32. - PubMed

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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

Affiliations

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

Authors

Affiliations

Conflict of interest statement

Figures

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Cited by

References

Publication types

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Supplementary concepts

Grants and funding

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Medical