Prenatal diagnosis of pentalogy of Cantrell in three cases, two with craniorachischisis

Abstract

In this report, we describe 3 cases of pentalogy of Cantrell diagnosed prenatally with sonography. All 3 fetuses had an omphalocele and ectopia cordis; 2 of them also had craniorachischisis, in which the open cranial defect (anencephaly or exencephaly) is continuous with the completely open spine (spinal dysraphism). The association of the pentalogy of Cantrell with exencephaly is rare, and to our knowledge, the association of this syndrome with craniorachischisis has not been reported previously. In addition, 2 of our cases had clubfoot, and 1 of them also had clubhand, neither of which has been reported previously in association with the pentalogy of Cantrell. Finally, polyhydramnios, which occurred in 2 of our cases, has been reported to occur in association with that syndrome in only 1 previous case. We believe that sonographers should be aware that these anomalies may occur simultaneously with the classic anomalies of the pentalogy of Cantrell.

Pentalogy of Cantrell associated with exencephaly and spinal dysraphism: antenatal ultrasonographic diagnosis. Case report

“…Ten cases of the pentalogy of Cantrell reported in the literature had central nervous system and craniofacial malformations; five of which had associated exencephaly and only 2 of these had spinal dysraphism [1,6]. Our case was a complete syndrome of pentalogy of Cantrell with additional findings of exencephaly and myelomeningocele.…”

“…This syndrome with poor prognosis consists of the following five anomalies: 1) deficient anterior diaphragm, 2) defect in the diaphragmatic pericardium, 3) lower sternal defect, 4) midline supraumbilical abdominal wall defect and 5) congenital cardiac abnormalities. The telltale signs of this syndrome are ectopia cordis and omphalocele [1]. VSD is the most common intracardiac finding while other common cardiac anomalies include ASD and tetralogy of Fallot.…”

“…However its full spectrum consists of five anomalies: anterior diaphragm deficiency, defect in the diaphragmatic pericardium, lower sternum and midline supraumbilical abdominal wall, along with various congenital cardiac abnormalities. The full spectrum of pentalogy of Cantrell has been described in few patients; moreover the association of pentalogy of Cantrell with combined exencephaly and spinal dysraphism is even rare and to our knowledge only 2 cases have been reported [1]. We report combined antenatal ultrasonographic and postmortem findings of a rare case of pentalogy of Cantrell associated with exencephaly along with spinal dysraphism diagnosed in a fetus of a 19 year-old primi gravida female.…”

Complete Pentalogy of Cantrell: A case report and a review of literature

“…1 Various other anomalies reported by other authors which were not present in this current case were craniofacial and other CNS anomalies such as cleft lip/palate, encephalocele, hygrocephalus and craniorachischisis. [12][13][14] Limb defects such as clubfoot, absent tibia or radius and hypodactyly were also absent. 15,16 Toyama MW (1972) described this rare syndrome in 3 classes: Class 1: Exact diagnosis with all five defects present.…”

Pentalogy of Cantrell and anaesthesia: a case report

“…6 The prevalence of POC is around 5.5 per 1 million live births 7 and occurs sporadically 7,8 although there is evidence for X-linked dominant inheritance. 2 It is due to a developmental abnormality at about 3-4 weeks post-conception in the ventral mesoderm.…”