Craniorachischisis with a variant of pentalogy of Cantrell, with lung extrophy

A case of cranioraschischisis including incomplete pentalogy of Cantrell (PC) is described. The female fetus had a large omphalocele with evisceration of the heart, left lung, liver, stomach, and intestines accompanying anencephaly, cervical, thoracal lumbar, spina bifida. The fetus had ectopia cordis and diaphragmatic agenesia with an intact sternum. We present a case of a neonate with the stigmata for PC with the exception of a sternal defect. A literature review is also included. Sonographers should check for ventral and dorsal anomalies with PC because they may occur simultaneously.     

Trisomy 18 syndrome with incomplete Cantrell syndrome

The pentalogy of Cantrell was first described in 1958 by Cantrell and coworkers, who reported five cases in which they described a pentad of findings including a midline supraumbilical thoracoabdominal wall defect, a defect of the Lower sternum, abnormalities of the diaphragmatic pericardium and the anterior diaphragm, and congenital cardiac anomalies. Trisomy 18 has an incidence of about 0.3 per 1000 newborns. We present a case of trisomy 18 with incomplete Cantrell syndrome. The patient presented with hypogenesis of the corpus callosum, vermian-cerebellar hypoplasia (Dandy-Walker variant), ventricular septal defect, dextrocardia, patent ductus arteriosus, a defect of the lower sternum, a midline supraumbilical abdominal wall defect with omphalocele, congenital left posterior diaphragmatic hernia (Bochdalek hernia), micrognathia, low-set and malformed ears, rocker-bottom feet, dorsiflexed hallux, hypoplastic nails, short neck, and wrist deformity. Trisomy 18 syndrome was unusually combined with the pentalogy of Cantrell. We present this case because of its rarity and high risk of mortality.     

Unusual cardiac malformations in conjoined twins: thoracopagus twins with conjoined pentalogy of Cantrell and an omphalopagus twin with atretic ventricles

Two unrelated cases of conjoined twins were found to have cardiac malformations that apparently have not been reported previously. In one case, thoracopagus twins had an extensive thoracoabdominal wall defect that resulted in ectopia cordis of a conjoined heart along with evisceration of the shared liver and intestine along with one spleen. These malformations, accompanied by defects in the sternum, diaphragm, and supraumbilical abdominal wall, constitute a conjoined pentalogy of Cantrell. In the second case, the heart of one of omphalopagus twins consisted of a solid ventricular mass with only a minute aortic cavity but no atrioventricular communication-an ineffective heart that could develop only in a conjoined or chorioangiopagus twin. In both cases, a common atrium lay in the primitive (embryologic) position caudal to the ventricles.     

Prenatal diagnosis of Cantrell's pentalogy: a case report

A 23 year-old nulliparous woman was admitted to the obstetrics clinic in the 12th week of her pregnancy. Following the first trimester scanning, the fetus was diagnosed as having a large omphalocele and ectopia cordis. It was thought to be a thoracoabdominal wall defect and a possible case of Cantrell's pentalogy. Amniocentesis was performed and at the 16th week, the pregnancy was terminated because of karyotype revealing trisomy 21 and the serious structural defects. Autopsy demonstrated an ectopia cordis without pericardium and an abdominal wall defect with an omphalocele. Fetus had no diaphragma or sternum, and pulmonary and extremity anomalies were also present. With these findings, this case is suggested to be a variant of Cantrell's pentalogy.     

Spectrum of Cantrell’s Pentalogy: Case Series From a Single Tertiary Care Center and Review of the Literature

The pentalogy of Cantrell (PC) was first described in 1958. It includes five anomalies: a deficiency of the anterior diaphragm, a midline supraumbilical abdominal wall defect, a defect in the diaphragmatic pericardium, various congenital intracardiac abnormalities, and a defect of the lower sternum. Five patients showing the PC spectrum are reported. The report presents the prenatal diagnosis, the postnatal course, and the patients’ outcome at a tertiary care center from June 2001 to May 2012. A literature review and the management plan for this group of patients also are discussed. All patient data were obtained via electronic medical records retrospectively after approval by the institutional review board at the home institution. The patients in the study were three males and two females. For all of the patients, a prenatal diagnosis had been determined. The mean gestational age at delivery was 36.6 weeks. One patient had associated cranial and spine malformations. All the patients had associated congenital heart disease but a normal karyotype. Four of the five patients died in the first year of life. The ages at death ranged from 0 to 259 days (mean, 46.2 ± 51.8 days). The patients who did not survive had withdrawal of care due to increased morbidity, associated complications, or parental wishes. The pentalogy of Cantrell is a wide spectrum of associations. Patients with the complete PC together with complex congenital heart disease or extracardiac malformations may have a poor prognosis. Incomplete PC cases may have a better outcome based on associated anomalies. Prenatal counseling plays a very important role in the decision-making process for the families and has a significant impact on the postnatal management. A multidisciplinary team approach is essential for successful postpartum outcomes.     

Pentalogy of Cantrell Associated with Hypoplastic Left Heart Syndrome

Pentalogy of Cantrell is a rare anomaly characterized by midline closure defects, including a defect in the lower sternum, supraumbilical abdominal wall defect, deficiency of the anterior portion of the diaphragm, deficiency in the diaphragmatic portion of the pericardium with free communication between the pericardial and peritoneal cavities, and congenital heart defects. The long-term prognosis for children with this anomaly depends to a great extent on the complexity of the associated congenital heart defect. We describe the previously unreported association of pentalogy of Cantrell with hypoplastic left heart syndrome.     

Pentalogy of cantrell

Omphalocele is often, associated with various abnormalities. In two patients admitted with omphalocele, we additionally found defects both in the pars stenalis of diaphragm and in the diaphragmatic surface of the pericardium, sternal defect and tetralogy of Fallot. These entities form the components of a syndrome, named pentalogy of Cantrell. It is extremely in the spectrum of midline closure defects that display wide variations and its incidence is very low. Existing cardiac defect is the most important factor influencing morbidity and mortality. Herein we report two cases of pentalogy of Cantrell with the review of the syndrome in the light of literature.     

Prognosis of pentalogy of Cantrell depends mainly on the severity of the intracardiac anomalies and associated malformations

We believe the paper may be of particular interest to the readers of your journal. It is a commentary on van Hoorn et al: Pentalogy of Cantrell: two patients and a review to determine prognostic factors for optimal approach (Eur J Pediatr (2008) 167:29–35). The correct definition of pentalogy of Cantrell and ectopia cordis was described in the text and the determinant factor that affects the prognosis of pentalogy of Cantrell was discussed.     

MR imaging of pentalogy of Cantrell variant with an intact diaphragm and pericardium

We present a case of a neonate with the stigmata for pentalogy of Cantrell with the exception of diaphragmatic and pericardial defects. Diagnosing most of the anomalies in this rare syndrome can be accomplished using conventional modalities in radiology, but difficulties may arise determining diaphragmatic continuity. Accurate, early diagnosis of components of this syndrome is vital for surgical planning and assessing prognostic factors. Received: 26 October 1999/Accepted: 13 April 2000     

Recurrent chest wall anomalies

Chest wall anomalies are a heterogeneous group of malformations requiring repair. Recurrence and the need for secondary repair may occur. Congenital anomalies, including bifid sternum, pentalogy of Cantrell, Jeunes's syndrome and Poland's anomaly, rarely recur. Pectus carinatum may recur in the original surgical area or an adjacent area and most often recurs in patients who undergo repair before completion of teenage growth. Pectus excavatum may recur in approximately 5% of patients. Simple recurrence, floating sternum, or Acquired Jeune's syndrome may result. All of these would require reoperation. Each chest wall anomaly recurrence requires an individualized approach to timing and type of repair. Overall excellent results should be obtained for operative repair of recurrences.     

Ectopia cordis with tetralogy of Fallot in an infant with pentalogy of Cantrell: high-pitch MDCT exam

We report the MDCT findings of a 17-month-old girl with Cantrell′s pentalogy, a rare congenital disease characterized by several defects in the ventral thoracoabdominal wall including ectopia cordis, and, in this patient, associated with tetralogy of Fallot. This case provides an example of the utility of a wide volume in coverage and high-pitch MDCT scan in the evaluation of complex cardiovascular anatomy in infants with congenital heart disease without the need of an ECG-gating acquisition.     

Hypoplastic Left Heart Syndrome Associated with Large Omphalocele and Hypoplastic Left Bronchus

We present a patient with the combination of hypoplastic left heart syndrome (HLHS), large omphalocele, and hypoplastic left bronchus who underwent a modified Norwood procedure and was successfully discharged home. The child required tracheostomy with home ventilation and we elected to delay the primary repair of the omphalocele. To our knowledge, this is the first reported case with this combination of anomalies surviving till hospital discharge. Our experience demonstrates the potential viability of patients with concurrent HLHS, large abdominal wall defects, and airway anomalies and may additionally advocate for delayed repair of large omphaloceles in patients with complex congenital heart disease.     

The spectrum of Cantrell's syndrome

Eight patients representing the entire spectrum of Cantrell's syndrome are presented. While a combined diaphragmatic and pericardial defect is an essential feature of the syndrome, other manifestations form a continuum ranging from innocent upper abdominal midline defects to the full-blown pentalogy sometimes incompatible with life. In only two cases was the diagnosis established preoperatively. One patient presented uniquely with bilateral chylothoraces. Clinical suspicion, plain chest roentgenograms, and ultrasonography proved the most definitive diagnostic aids. Two patients died early due to their severe cardiac malformations. Six children are alive 16 months to 23 years postoperatively. Seven patients underwent operative correction of their defects. A primary repair of the abdominal and diaphragmatic lesions was performed trans-abdominally or via a sternotomy in all but one case. Two patients had late repairs of their intracardiac defects. Although rare, Cantrell's syndrome must be actively sought in every patient with an omphalocele or an atypical diaphragmatic hernia. These patients need a full cardiac evaluation before operation. The Diaphragmatic defect must be recognized and repaired before closure of the omphalocele. The prognosis depends mainly on the cardiac lesion. Offprint requests to: K. Vanamo     

A new technique for the repair of large pericardial defects in patients with pentalogy of Cantrell

Thoracoabdominal ectopia cordis is a rare congenital malformation usually associated with anterior diaphragmatic and pericardial defects, a short or bifid sternum, and intracardiac defects. Several techniques have been attempted for the correction of this anomaly. We report a patient with a large pericardial defect that was repaired with remnants of the omphalocele sac. The method is simple and effective, and should be considered as an alternative for the management of this disease. Offprint requests to: E. L. Wrenn     

Pentalogy of Cantrell

The pentalogy of Cantrell is a rare midline developmental field complex often with a dismal outcome. We present a newborn qualifying for Cantrell’s pentalogy with an abdominal wall defect, a diaphragmatic defect and a heart defect, a ventricular septal defect (VSD) and a left ventricular diverticulum. Early operative correction following accurate diagnostic work-up was prompted at the age of 11 weeks because of progressive heart failure. Beside correction of the VSD and the abdominal and diaphragmatic defects, resection of the distal part of the diverticulum was possible without damage to the LAD and preserving good contractility. Two years postoperative follow-up is uneventful.     

Pentalogy of Cantrell: A Case Report with Pathologic Findings

We present the case of a 28-h-old female infant born at 37 weeks of gestation with a rare congenital malformation consisting of a pentad of findings: ectopia cordis, a midline supraumbilical wall defect, a defect of the lower sternum, absent pericardium, and an anterior diaphragmatic defect. This constellation of defects is known as the pentalogy of Cantrell. Additional autopsy findings included a bilateral cleft lip and palate, bilateral pulmonary hypoplasia, an atrial septal defect, and a patent ductus arteriosus. We present this case because of its rarity and discuss the pathologic findings. published online December 6, 2004.     

Cantrell syndrome or the "shagreen skin" pentalogy. Apropos of 3 cases]

Three patients with incomplete forms of Cantrell syndrome underwent surgical therapy at the Department of Infantile Surgery in Strasbourg, France, between 1979 and 1990. One patient had a giant omphalocele. Another had a ventricular septal defect. Two of the three patients are alive and doing well. The nosology and prognostic factors in Cantrell syndrome are discussed.     

Outcome of Children with Pentalogy of Cantrell Following Cardiac Surgery

Although single individual reports have documented outcomes in children with pentalogy of are few data available for postoperative outcome of this cohort of patients after cardiac surgery. The aim of this study was to retrospectively review the clinical details of patients with pentalogy of Cantrell managed at two centers. Two cardiac surgical institutions retrospectively studied all patients with pentalogy of Cantrell and significant congenital heart disease who underwent surgical intervention, excluding PDA ligation, between 1992 and 2004. Seven children with pentalogy of Cantrell underwent surgical intervention at a median age of 60 days (range, 1–11 months). Three patients had tetralogy of Fallot, two double outlet right ventricle, one patient had tricuspid atresia, and one patient a perimembranous ventricular septal defect. The mean duration of postoperative ventilation was 112.8 days (range, 4–335 days) but three patients required ventilation for more than 100 days. Patients who had a preoperative diaphragmatic plication required a longer duration of ventilation (mean = 186.5 days [range, 100–273 days] compared with mean = 132 days [range, 4–335 days]). Four patients survived, with three patients weaned from ventilation. Three patients had withdrawal of care following failure to wean from ventilation, following multisystem organ failure, and at the request of their parents. In conclusion, the postoperative care of children with pentalogy of Cantrell after cardiac surgery is often complicated by prolonged need for ventilatory support and multiple postoperative complications. Earlier surgical intervention does not necessarily reduce morbidity and mortality. These data may help in the counseling of parents prior to surgical intervention.     

Pentalogy of Cantrell

Pentalogy of Cantrell is a constellation of five congenital defects that pose a unique challenge for surgeons. Defects of the heart, pericardium, diaphragm, sternum, and anterior abdominal wall are pathognomonic. Although the incidence is low, it is critical to identify it in a timely fashion in order to adequately address all aspects. Early diagnosis, supportive care, and strategic surgical planning with a multidisciplinary team are all key components in managing patients with Pentalogy of Cantrell. In this text we sought to explore the evolution of both the understanding and treatment for this complex entity and provide current recommendations to today's pediatric caregivers.