Síndrome Tóraco-abdominal: Reporte de um Caso em um Museu de Morfologia

Abstract

Introduction: The thoracoabdominal syndrome (TAS) is characterized by the inconstant association between thoracoabdominal wall defects and other midline defects, which have been recently included on the pentalogy of Cantrell within its spectrum of presentation. It has been postulated that the etiology corresponds to an alteration in the region Xq25-Xq26,1 with a dominant inheritance pattern linked to chromosome X and complete penetrance. Prevalence of this syndrome is unknown. Case presentation: Case report of a fetus that belongs to the collection at the Museum of Morphology at Universidad Libre (Cali-Colombia) which was subjected to a process of macroscopic inspection by segments, made by a morphologist and a geneticist, who reported the presence of left cleft lip and cleft palate, syndactyly, thoracoabdominal defect with protrusion of multiple organs, including the heart, severe scoliosis, absence of sternum and clubfoot. Conclusions: A male fetus with macroscopic findings of severe midline defects in face and thoracoabdominal wall, including ectopia cordis was reported. Differential diagnosis with the pentalogy of Cantrell and limb-body wall complex was made. With the sum of findings, it was concluded that the definitive diagnosis for this case was TAS.