Pentalogia de Cantrell, caso ocorrido em Goiânia - Goiás e Revisão de literatura

Abstract

Cantrell's Pentalogy (CP) is a rare syndrome with an incidence of 1:65,000 to 200,000 live births, affecting more males than females. Initially described by Cantrell et al. in 1958, it is characterized by five primary defects: in the abdominal wall, sternum, diaphragm, pericardium, and heart. In 1972, Toyama classified CP into three categories: complete (class I), probable (class II), and incomplete (class III). The etiology of CP is unknown, but hypotheses include failures in mesoderm fusion and genetic mutations. The syndrome is associated with high mortality, especially in cases with complex cardiac defects. Prenatal diagnosis is possible with ultrasound and magnetic resonance imaging This study aims to describe a case of CP in Goiânia, Brazil, in 2023, and review existing literature. The study will include the description of the case from diagnosis to birth, correction techniques and a review of published cases. The study expects to update knowledge on CP, raise academic awareness, and publish the findings in a scientific journal and at a local conference.