Resumen

PRIETO AGUERO, María Magdalena; GODOY LOPEZ, Sandra  y  CABALLERO PORTILLO, Belén Ramona. Edwards syndrome: case report. Rev. Nac. (Itauguá) [online]. 2026, vol.18, e1800201.  Epub 23-Jun-2026. ISSN 2072-8174.  https://doi.org/10.18004/rdn2026.e1800201.

Edwards syndrome is an autosomal disorder characterized by multiple malformations, including craniofacial, thoracoabdominal, limb, skin, and appendage anomalies. It also involves neurological, cardiac, pulmonary, and other internal organ abnormalities, in addition to growth retardation. This syndrome is caused by the presence of three chromosomes in pair 18 and is the second most common chromosomal disease after trisomy 21. We present a clinical case based on a presumptive prenatal clinical diagnosis, as genetic diagnostic techniques were not available. The newborn exhibited most of the anomalies described for this condition, which allowed us to support the clinical diagnosis. The objective is to highlight the importance of timely prenatal diagnosis using the most accessible imaging techniques, such as ultrasound, and the need for a multidisciplinary team that provides comprehensive support to families.

Palabras clave : trisomy; malformations; syndrome..

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