Year: 2025
Type: article
Study design: Case Report
Abstract: VACTERL association refers to the concomitant occurrence of congenital malformations such as vertebral defects, anorectal malformations, cardiac anomalies, tracheoesophageal fistula, renal anomalies, and limb defects. This case describes a newborn girl who presented with anomalies compatible with this association, such as scoliosis, sacral dysgenesis, right lower phocomelia, and multicystic renal dysplasia, also associated with myelomeningocele, which was surprising as it occurred concomitantly with the other congenital malformations. Although neural tube defects are not part of the classic criteria for VACTERL, their coexistence with the characteristic malformations of this association raises the possibility of broadening its phenotypic spectrum, encourages debate on the inclusion of new criteria to define it, and highlights the importance of considering systematic evaluation of the spinal cord in screening, aspects that have been little explored in Latin America.
Source: Archivos Argentinos de Pediatria
Authors: Mateo J Murcia Ramos, María F Rodríguez Banda, Natalia M Mazo Correa, Gustavo A Giraldo Ospina
Language: English
Field: Medicine
Domain: Health Sciences
Open Access status: diamond
OpenAlex ID: W4415877683
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