Diagnosis of Pentalogy of Cantrell with Craniorachischisis at 11 weeks on 2 Dimensional Ultrasound - A rare case report

Pentalogy of Cantrell (PC) is an extremely rare congenital malformation, with estimated incidence from 5.5 to 7.9 per million live births. Diagnosed in second trimester or beyond with first trimester detection in hand full of cases and 2 case reports at 11 weeks in literature. An unusual combination of PC with craniorachischisis, has been reported by a few at 18-26 weeks with one at 12 weeks. Ours is the first ever presented case report diagnosed as early as 11 weeks. This patient was diagnosed with PC and craniorachischisis at 11 weeks by 2D ultrasound who underwent pregnancy termination. Presence of a throracoabdominal defect at such early gestation should alert sonologists to include PC in differentials. This rare combination of dorsal and ventral midline defects occurring at a similar embryologic timeline could point to a common inciting event that needs to be further investigated.