Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 2013 Jul 10:39:45.
doi: 10.1186/1824-7288-39-45.

Esophageal atresia in newborns: a wide spectrum from the isolated forms to a full VACTERL phenotype?

Simona La Placa  1 , Mario Giuffrè, Antonella Gangemi, Stefania Di Noto, Federico Matina, Federica Nociforo, Vincenzo Antona, Maria Rita Di Pace, Maria Piccione, Giovanni Corsello
Affiliations

Esophageal atresia in newborns: a wide spectrum from the isolated forms to a full VACTERL phenotype?

Simona La Placa et al. Ital J Pediatr. .

Abstract

Background: VATER association was first described in 1972 by Quan and Smith as an acronym which identifies a non-random co-occurrence of Vertebral anomalies, Anal atresia, Tracheoesophageal fistula and/or Esophageal atresia, Radial dysplasia. It is even possible to find out Cardiovascular, Renal and Limb anomalies and the acronym VACTERL was adopted, also, embodying Vascular, as single umbilical artery, and external genitalia anomalies.

Methods: Data on patients with esophageal atresia (EA) with or without tracheoesophageal fistula (TEF) admitted in the Neonatal Intensive Care Unit (NICU) between January 2003 and January 2013 were evaluated for the contingent occurrence of typical VACTERL anomalies (VACTERL-type) and non tipical VACTERL anomalies (non-VACTERL-type). The inclusion criterion was the presence of EA with or without TEF plus two or more of the following additional malformations: vertebral defects, anal atresia, cardiovascular defects, renal anomalies and lower limb deformities, like radial dysplasia.

Results: Among 52 patients with EA/TEF, 20 (38,4%) had isolated EA and 7 (21,8%) had a recognized etiology such a syndrome and therefore were excluded. Among 32 infants with EA and associated malformations, 15 (46,8%) had VACTERL association. The most common anomalies were congenital heart defects (73,3%), followed by vertebral anomalies (66,6%). Many patients also had additional non-VACTERL-type defects. Single umbilical artery was the most common one followed by nervous system abnormalities and anomalies of toes. Between the groups of infants with VACTERL type and non-VACTERL-type anomalies, there are several overlapping data regarding both the tipically described spectrum and the most frequently reported non-VACTERL-type malformations. Thus, it is possible to differentiate infants with a full phenotype (VACTERL full phenotype) and patients that do not meet all the criteria mentioned above, but with some homologies with the first group (VACTERL partial phenotype).

Conclusion: The high frequency of non-VACTERL-type anomalies encountered in full and partial phenotype patients would suggest the need for an extension of the clinical criteria for the diagnosis of VACTERL association and also for pre- and post-operative management and follow-up in the short and long term.

PubMed Disclaimer

Figures

Figure 1
Figure 1
Patients with EA/TEF admitted in this study. Clustering of non-isolated-EA in syndromes, VACTERL association and EA with multiple malformations.
Figure 2
Figure 2
Partition of patients in three groups. Identification of three clusters of patients: VACTERL full phenotype, VACTERL partial phenotype and EA with only non-VACTERL-type defects.
Figure 3
Figure 3
Comparison between patients with VACTERL full phenotype and VACTERL partial phenotype. There are several overlapping data for the typical VACTERL malformations. V, vertebral anomalies; A, anal atresia; C, cardiovascular anomalies; TE, tracheoesophageal fistula and/or esophageal atresia; R, renal anomalies; L, limb anomalies.
Figure 4
Figure 4
Flow-chart showing patient group composition.
See this image and copyright information in PMC

Similar articles

See all similar articles

Cited by

See all "Cited by" articles

References

    1. Corsello G, Giuffrè M. Congenital malformations. J Matern Fetal Neonatal Med. 2012;25(S1):25–29. doi: 10.3109/14767058.2012.664943. - DOI - PubMed
    1. Solomon BD. VACTERL/VATER association. Orphanet J Rare Dis. 2011;6:56. doi: 10.1186/1750-1172-6-56. - DOI - PMC - PubMed
    1. Quan L, Smith DW. In: The clinical delineation of birth defects. Volume XII. G.I. tract including liver and pancreas. Bergsma D, editor. Baltimore: The Williams and Wilkins company; 1972. The VATER association: vertebral defects, anal atresia, tracheoesophageal fistula with esophageal atresia, radial dysplasia; pp. 75–78.
    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;82:104–107. doi: 10.1016/S0022-3476(73)80024-1. - DOI - PubMed
    1. Hall BD. In: Management of genetic syndromes. Third. Suzanne B, Cassidy MD, Allanson JE, editor. Hoboken, New Jersey: Pubblished by John Wiley & sons Inc.; 2010. VATER/VACTERL association; pp. 871–878.

MeSH terms

Supplementary concepts