Abstract
Pentalogy of Cantrell is a rare malformation described in the literature. We report a case of pentalogy of Cantrell associated with left limb deficiency in a twin pregnancy. The fetus with multiple anomalies revealed kyphosis, ectopia cordis, and a large defect with protruding liver and bowel loops at 12 weeks and 3 days of gestational age on ultrasound scan. The other fetus was ultrasonographically normal. We diagnosed a case of pentalogy of Cantrell in a twin pregnancy after exclusion of limb body wall complex, body stalk anomaly, and amniotic band syndrome and after delivery of the fetuses. Macroscopic examinations were ectopia cordis, extrusion of the abdominal organs without membranes surrounding, and agenesis of the left limb.
Highlights
Many cases of pentalogy of Cantrell (PC) have been reported since the first case which was defined by Cantrell and colleagues in 1958 [1]
The initial syndrome was diagnosed as a pentad including midline supraumbilical abdominal wall defects, deficiency of the anterior diaphragm, defects of the lower sternum, defects of the diaphragmatic pericardium, and congenital intracardiac abnormalities
We have reviewed the published literature on PC and reported a twin case with the diagnosis of PC and a normal fetus
Summary
Many cases of pentalogy of Cantrell (PC) have been reported since the first case which was defined by Cantrell and colleagues in 1958 [1]. The initial syndrome was diagnosed as a pentad including midline supraumbilical abdominal wall defects, deficiency of the anterior diaphragm, defects of the lower sternum, defects of the diaphragmatic pericardium, and congenital intracardiac abnormalities. Variable cardiac anomalies have been reported and among the anomalies, ventricular septal defects, atrial septal defects, or other abnormalities are the most common reported. We have reviewed the published literature on PC and reported a twin case with the diagnosis of PC and a normal fetus
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