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
. 2020 Jun;182(6):1351-1363.
doi: 10.1002/ajmg.a.61582. Epub 2020 Apr 6.

Patterns of malformation associated with esophageal atresia/tracheoesophageal fistula: A retrospective single center study

Carolina I Galarreta  1 , Florin Vaida  2 , Lynne M Bird  1
Affiliations

Patterns of malformation associated with esophageal atresia/tracheoesophageal fistula: A retrospective single center study

Carolina I Galarreta et al. Am J Med Genet A. 2020 Jun.

Abstract

Esophageal atresia/tracheoesophageal fistula (EA/TEF) is one of the most common gastrointestinal birth defects. It can occur in isolation or in association with other birth defects or genetic syndromes. We retrospectively reviewed the EA/TEF cases evaluated at Rady Children's Hospital San Diego (San Diego, CA) between 2007 and 2016. Data were collected for 157 patients. The majority of patients (105, 66.8%) had an associated major malformation present, and 52 patients (33.1%) had isolated EA/TEF. The patients with associated malformations were distributed as follows: 16 patients (10.2%) had a known genetic syndrome (the most common being Trisomy 21 in 11 patients); six patients (3.8%) had a suspected genetic syndrome; one patient had a suspected teratogenic syndrome (diabetic embryopathy); 30 patients had VACTERL association (19.1%); 32 patients had a "partial VACTERL" association (only two VACTERL-type defects without other malformation); nine patients (5.7%) had one additional non-VACTERL-type birth defect, two patients had VACTERL-type defects plus auricular malformations; and nine patients (5.7%) were classified as "unknown syndrome." A classification of the patterns of malformation of patients with congenital EA/TEF is proposed based on reviewing the data of this relatively large and phenotypically diverse patient group.

Keywords: VACTERL; associated anomalies; esophageal atresia (EA); pattern of malformation; tracheoesopageal fistula (TEF).

PubMed Disclaimer

References

REFERENCES

    1. Alkhatib, S. G., & Landry, J. W. (2011). The nucleosome remodeling factor. FEBS Letters, 585(20), 3197-3207. https://doi.org/10.1016/j.febslet.2011.09.003
    1. Bagolan, P., Iacobelli Bd, B., De Angelis, P., di Abriola, G. F., Laviani, R., Trucchi, A., … Dall'Oglio, L. (2004). Long gap esophageal atresia and esophageal replacement: Moving toward a separation? Journal of Pediatric Surgery, 39(7), 1084-1090 Retrieved from https://www.ncbi.nlm.nih.gov/pubmed/15213904
    1. Bairdain, S., Zurakowski, D., Vargas, S. O., Stenquist, N., McDonald, M., Towne, M. C., … Agrawal, P. B. (2017). Long-gap esophageal atresia is a unique entity within the esophageal atresia defect Spectrum. Neonatology, 111(2), 140-144. https://doi.org/10.1159/000449241
    1. Bartels, E., Jenetzky, E., Solomon, B. D., Ludwig, M., Schmiedeke, E., Grasshoff-Derr, S., … Zwink, N. (2012). Inheritance of the VATER/VACTERL association. Pediatric Surgery International, 28(7), 681-685. https://doi.org/10.1007/s00383-012-3100-z
    1. Beauregard-Lacroix, E., Tardif, J., Lemyre, E., Kibar, Z., Faure, C., & Campeau, P. M. (2017). Genetic testing in a cohort of complex esophageal atresia. Molecular Syndromology, 8(5), 236-243. https://doi.org/10.1159/000477429

MeSH terms

Supplementary concepts

LinkOut - more resources