Pentalogy of Cantrell With a Maxillary Gap Identified at 12 Weeks of Gestation

Abstract

Pentalogy of Cantrell (POC) is a rare syndrome, with an omphalocele and ectopia cordis (EC) being pathognomonic anomalies. In this case report, a 12-week fetus, for nuchal translucency (NT) assessment, displayed a sac protruding through the midline of the fetal abdomen and lower thorax. The fetus’ cardiac activity was detected within the sac. These sonographic appearances are consistent with omphalocele and EC, respectively. A thickened NT and cystic hygroma (CH) were also identified. An important finding was a 1.8 mm maxillary gap (MG), which is a new marker for possible early diagnosis of cleft lip and palate (CLP), in the first trimester. The coexistence of a MG with POC is unique.