Anomalía de prune-belly en un paciente con síndrome de Edwards

Abstract

Introduction: prune-belly anomaly (PBA) is rare in fetuses with trisomy 18 (T18). Case presentation: we report a 31-week-old male newborn with intrauterine growth restriction, polyhydramnios, megabladder, and posterior urethral valves. In the physical examination, the APB and the phenotype compatible with Edwards syndrome were identified. The patient died hours after birth, but the diagnosis could be confirmed by means of a peripheral blood karyotype: 47,XY,t(5;20)(q22;p11.2),t(8;18)(q22;q11.2),+18. Array comparative genomic hybridization (aCGH): arr(18) x3, indicated a double reciprocal translocation, apparently balanced. Conclusions: patients with T18 have multiple congenital malformations, but their association with APB is somewhat atypical.