Pentalogy of Cantrell: An Extremely Rare Congenital Anomaly
A baby boy weighing 2,390 gm was born to a 39-year-old primigravida mother at 33 weeks of gestation. The maternal antenatal care was transferred to a tertiary setting following the detection of multiple fetal anomalies at 14 weeks of gestation in a polyclinic. Her medical and obstetric histories were unremarkable. Parents were non-consanguineous. A detailed anomaly scan showed a live fetus with EC [] and omphalocele. Fetal echocardiography revealed atrial and ventricular septal defects. The pericardium was not visualized.\nParents were counseled regarding the fetus possibly having a severe form of PC and an amniocentesis was offered. However, they denied amniocentesis and decided to continue with the pregnancy due to religious beliefs. At parental request the perinatal team agreed to deliver the baby at term with a standby multidisciplinary team for surgical intervention, if feasible after assessment.\nWhile on follow-up, mother was admitted with preterm labor at 33 weeks of pregnancy. At parental request, cesarean section was done. A live male infant was born with poor Apgar scores requiring intubation at two minutes of life. On examination there was a large anterior thoraco-abdominal wall defect, ectopic contractile heart and an edematous liver with loops of small intestine and colon outside the abdominal cavity []. Spleen and splenunculi were seen. The face was dysmorphic with bilateral cleft lip. The thoraco-abdominal wall defect was extending from the umbilicus to the upper third of the body of the sternum. The cord was distorted at the umbilicus due to omphalocele. The liver was enlarged with a prominent caudate lobe and the gall bladder appeared normal. A large defect in the diaphragm extending from the sternum to the spine posteriorly was noted. Lungs could be visualized through the defect. Lower half of the body of the sternum and the xiphisternum were absent. The spine was showing severe scoliosis and the abdominal cavity was contracted. All the four limbs were normal. Both kidneys were small and were noted in the pelvis. The external genitalia showed a normal male phenotype. Birth weight, length and head circumference were in the 10-50th percentile.\nAn echocardiogram confirmed the atrial and ventricular septal defects and patent ductus arteriosus. The pericardium was absent. Cranial ultrasonographic scan was unremarkable.\nParents were updated and they requested for comfort care. The ventilatory support was withdrawn and the baby died at three hours of life. The parents consented only for partial autopsy. The biopsy of the skin surrounding the anterior abdominal wall defect was done to rule out amniotic bands and was reported as normal. A biopsy was obtained from the base of the heart and confirmed the absence of the pericardium. Karyotyping showed a normal male infant.