A Case of a Newborn Presenting With a VACTERL-Like Association

Cureus. 2024 Dec 9;16(12):e75400. doi: 10.7759/cureus.75400. eCollection 2024 Dec.

Abstract

The VACTERL (vertebral defects, anal atresia, cardiac defects, tracheoesophageal fistula, renal anomalies, and limb abnormalities) association represents an enigmatic syndrome requiring further study. This report describes a full-term neonate born to a multiparous woman who was found, upon further examination, to have multiple congenital abnormalities, including a bicuspid aortic valve, patent foramen ovale, tracheoesophageal fistula (TEF), asymmetric crying facies, microphallus, and a single inguinal testis. The discussion explores environmental and genetic factors that may contribute to this association, as well as similar conditions, such as CHARGE (coloboma, heart defects, choanal atresia, growth retardation, genital abnormalities, and ear abnormalities) syndrome. This study aims to serve as a primer for intellectual inquiry in recognizing and understanding the VACTERL association among healthcare professionals.

Keywords: bicuspid aortic valve disease; congenital birth defect; micropenis; tracheo-esophageal fistula; vacterl association.

Publication types

  • Case Reports