A Precious Puzzle: Unveiling a Suspected VACTERL (Vertebral, Anal, Cardiovascular Malformations, Tracheo-esophageal Fistula, Renal Anomalies, and Limb Defects) Association in a 28-Day-Old Neonate

VACTERL is an acronym that stands for a wide range of congenital anomalies, including vertebral anomalies, tracheoesophageal fistula, anorectal anomalies (anal atresia), cardiac anomalies, renal anomalies, and limb malformations. While not a true syndrome, the co-occurrence of these findings suggests a common underlying cause. Here, we present a case of a 28-day-old neonate with suspected VACTERL association. The baby was delivered preterm to non-consanguineous parents. The baby had vertebral abnormalities, renal defects, an imperforate anus, a posterior urethral valve, and an absent right pulmonary artery. The current case report emphasizes the critical role of pathologists who specialize in the dissection and confirmation of fetal anomalies as members of the multidisciplinary team that manages complex pregnancies with this type of abnormality.