Edwards Syndrome, a Clinical Challenge: Case Report.

Reporte de caso.

Abstract

Edwards syndrome is a polymalformative disorder caused by the presence of three chromosomes in pair 18. It is associated with advanced maternal age and can occur in any population, regardless of race or geographic location.

This syndrome is characterized by multiple malformations affecting growth, as well as craniofacial, thoracoabdominal, extremity, skin, and appendage abnormalities, along with neurological, cardiac, and pulmonary anomalies. The prognosis is poor, with high mortality rates and a significant risk of severe disabilities.

In this report, we present a clinical case based on a presumptive clinical diagnosis, as genetic diagnostic techniques were unavailable. The case exhibits most of the frequent anomalies described for this syndrome, supporting the clinical diagnosis.

The importance of prenatal identification of potential clinical anomalies through appropriate techniques is emphasized, as this facilitates better medical interpretation and management of the case, in addition to providing emotional support and genetic counseling for the family.