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Chen, Y., Liu, Z., Chen, J., Zuo, Y., Liu, S., Chen, W., et al. (2016) The Genetic Landscape and Clinical Implications of Vertebral Anomalies in VACTERL Association. Journal of Medical Genetics, 53, 431-437.
https://doi.org/10.1136/jmedgenet-2015-103554

has been cited by the following article:

• TITLE: Left Nostril Agenesis in a Fetus with VACTERL Association: A Case Report

  AUTHORS: Martha Martínez-Gómez, Elena Satorres-Pérez, Alicia Martínez-Varea

  KEYWORDS: VACTERL Association, Nostril Agenesis, Fetal Ultrasound, Fetal MRI

  JOURNAL NAME: Open Journal of Obstetrics and Gynecology, Vol.13 No.4, April 20, 2023

  ABSTRACT: VACTERL association represents a rare condition with a broad spectrum of coexisting congenital abnormalities. Although a multifactorial origin has been described, the etiology is still unclear. Prenatal diagnosis can be challenging, as specific characteristics may be difficult to be determined before birth. This case report describes the finding of multiple congenital abnormalities in a male fetus at 30 weeks of gestation. The most notable findings were the presence of duodenal stenosis, esophageal atresia with distal tracheoesophageal fistula (type 3), interatrial septal communication foramen ovale, and left nostril and choana agenesis. After birth and making a broad differential diagnosis, all these characteristics oriented the diagnosis towards the VACTERL association. To the best of our knowledge, no cases of VACTERL association and unilateral nostril and choana agenesis have been previously described.