A diagnostic and multidisciplinary challenge in the spectrum of congenital malformations: VACTERL Association, case report

Abstract

VACTERL association is a non-random spectrum of congenital malformations characterized by the coexistence of vertebral, anorectal, cardiac, tracheoesophageal, renal, and limb anomalies. Its diagnosis remains challenging due to its clinical heterogeneity and the absence of a specific genetic marker. We present the case of a newborn treated at a tertiary care hospital in Quito, Ecuador, in whom a clinicoradiological assessment enabled the diagnosis of VACTERL association. The imaging workup included conventional radiography, complemented by targeted studies according to the clinical findings. Early identification of the associated malformations facilitated timely therapeutic management and surgical planning. This case highlights the importance of the early recognition of characteristic radiologic findings and the value of a multidisciplinary approach in optimizing prognosis and improving the quality of life of affected patients.