Association of VACTERL with truncus arteriosus, left-sided aortic arch, hypoplastic pulmonary arteries, and severe radial axis defect

Background: VACTERL association is usually a sporadic disorder, the possible etiologies of which have been proposed as familial as well as multiple genetic and environmental factors. VACTERL association usually consists of at least three of the core features of vertebral defects, anal atresia, cardiac defects, tracheoesophageal fistula, renal anomalies, and limb abnormalities. Vertebral anomalies, cardiac malformations, renal anomalies, and limb malformations have been reported to occur in 60-80%, 40-80%, 50-80%, and 40-50% of the patients, respectively. Among the cardiac anomalies, ventricular septal defect is the most prevalent one. Truncus arteriosus is a rarely associated defect. The radial anomalies are the most classic limb defects with different severity levels (types I-IV). Although radial axis defect usually accompanies this association, complete absence of radius is reported only in one third of the cases. Case report: In this case study, we reported a neonate having this association consisting of severe cyanotic congenital heart defect (truncus arteriosus) and unilateral type IV radial aplasia. Conclusion: VACTERL association components can have various new findings.