The confused identity of Cantrell's pentad: ectopia cordis is related either to thoracoschisis or to a diaphragmatic hernia with an omphalocele

To find out if Cantrell's pentad is a single entity, four cases of ectopia cordis were studied and compared with cases in the literature. Our cases had the heart outside the thorax and had two to four other features of the association. In one case the thoracic organs had apparently escaped through a diaphragmatic hernia into an omphalocele, and in the others via a thoracoschisis with an abdominal defect, either a supraumbilical hernia or a gastroschisis. According to these cases and those from the literature, it is proposed that there are two major mechanisms leading to ectopia cordis: (1) a reversed diaphragmatic hernia in the case of a large diaphragmatic defect and an omphalocele, and (2) through a sterno-costal defect, with gastroschisis or a supraumbililical abdominal defect. As omphaloceles and major diaphragmatic defects are probably pathogenetically distinct from thoraco- and thoracogastroschisis, it is important to distinguish these groups of anomalies, rather than be concerned as to their relationship with Cantrell's pentad.     

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.     

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     

Trisomy 18 with ectopia cordis, omphalocele, and ventricular septal defect: case report

A case of thoracoabdominal ectopia cordis was diagnosed by ultrasonography at 21 weeks' gestation. Chromosomal analysis showed full trisomy 18. This case supports the associational of thoracoabdominal ectopia cordis (Cantrell's pentad) with chromosomal errors, specifically trisomy 18.     

Trisomy 18 with Ectopia Cordis, Omphalocele, and Ventricular Septal Defect: Case Report

A case of thoracoabdominal ectopia cordis was diagnosed by ultrasonography at 21 week's gestation. Chromosomal analysis showed full trisomy 18. This case supports the associationl of thoracoabdominal ectopia cordis (Cantrell's pentad) with chromosomal errors, specifically trisomy 18.     

Pulmonary hypoplasia in infants with giant abdominal wall defects

The medical records of 114 infants with abdominal wall defects, including 35 infants examined at autopsy, were reviewed to determine if giant (liver-containing) defects are associated with a narrow thoracic cage deformity and pulmonary hypoplasia. The study included 48 infants with gastroschisis, 60 with omphalocele, two with a lower midline syndrome (cloacal exstrophy) and four with an upper midline syndrome (Cantrell's pentalogy). A giant abdominal wall defect was present in 33 infants, including one with gastroschisis, 27 with omphalocele, two with a lower midline syndrome, and three with an upper midline syndrome. A thoracic cage deformity, characterized by a narrow chest and down-slanting ribs, was identified radiographically in 42% (14 of 33) of infants with giant abdominal wall defects. Among the 35 infants examined at autopsy, 14 infants with giant omphaloceles had mean chest circumference to occipital frontal circumference ratio and lung weight to body weight ratios that were significantly below the means for infants with gastroschisis or small omphalocele. Lung weight to body weight ratios indicated marked pulmonary hypoplasia in three of 12 (25%) of infants who had a narrow thoracic cage deformity, and radial alveolar counts indicated mild pulmonary hypoplasia in four additional infants. Prematurity (four infants), diaphragmatic abnormalities (seven infants), and congenital heart disease (four infants) potentially contributed to the respiratory distress experienced by these 12 infants. Infants with giant abdominal wall defects and narrow thoracic cages are at increased risk for pulmonary hypoplasia and respiratory distress.     

Pulmonary Hypoplasia in Infants with Giant Abdominal Wall Defects

The medical records of 114 infants with abdominal wall defects, including 35 infants examined at autopsy, were reviewed to determine if giant (liver-containing) defects are associated with a narrow thoracic cage deformity and pulmonary hypoplasia. The study included 48 infants with gastroschisis, 60 with omphalocele, two with a lower midline syndrome (cloacal exstrophy) and four with an upper midline syndrome (Cantrell's pentalogy). A giant abdominal wall defect was present in 33 infants, including one with gastroschisis, 27 with omphalocele, two with a lower midline syndrome, and three with an upper midline syndrome. A thoracic cage deformity, characterized by a narrow chest and down-slanting ribs, was identified radiographically in 42% (14 of 33) of infants with giant abdominal wall defects. Among the 35 infants examined at autopsy, 14 infants with giant omphaloceles had mean chest circumference to occipital frontal circumference ratio and lung weight to body weight ratios that were significantly below the means for infants with gastroschisis or small omphalocele. Lung weight to body weight ratios indicated marked pulmonary hypoplasia in three of 12 (25%) of infants who had a narrow thoracic cage deformity, and radial alveolar counts indicated mild pulmonary hypoplasia in-four additional infants. Prematurity (four infants), diaphragmatic abnormalities (seven infants), and congenital heart disease (four infants) potentially contributed to the respiratory distress experienced by these 12 infants. Infants with giant abdominal wall defects and narrow thoracic cages are at increased risk for pulmonary hypoplasia and respiratory distress.     

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.     

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.     

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.     

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     

Silo-assisted closure of a late-presenting diaphragmatic hernia

The use of silicone elastomer silos in neonates with ventral abdominal defects such as omphalocele and gastroschisis has been well documented. We believe this to be the first reported use of a silo for abdominal closure in an older child with delayed presentation of a congenital diaphragmatic hernia. In addition, absorbable mesh splenopexy was used for a partly-torsed, wandering spleen. Offprint requests to: H. Gibbs Andrews     

Neonatal abdominal wall defects

Gastroschisis and omphalocele are the two most common congenital abdominal wall defects. Both are frequently detected prenatally due to routine maternal serum screening and fetal ultrasound. Prenatal diagnosis may influence timing, mode and location of delivery. Prognosis for gastroschisis is primarily determined by the degree of bowel injury, whereas prognosis for omphalocele is related to the number and severity of associated anomalies. The surgical management of both conditions consists of closure of the abdominal wall defect, while minimizing the risk of injury to the abdominal viscera either through direct trauma or due to increased intra-abdominal pressure. Options include primary closure or a variety of staged approaches. Long-term outcome is favorable in most cases; however, significant associated anomalies (in the case of omphalocele) or intestinal dysfunction (in the case of gastroschisis) may result in morbidity and mortality.     

Embryology, sternal clefts, ectopia cordis, and Cantrell's pentalogy

Sternal clefts, ectopia cordis, and Cantrell's pentalogy continue to be very rare congenital anomalies in pediatric surgery. Unfortunately, these conditions present as neonatal emergencies and demand early surgical intervention. This article reviews the embryological development of the chest wall, specific sternal defect anomalies, along with available methods of treatment.     

Teratogens inducing congenital abdominal wall defects in animal models

Congenital abdominal wall defects are common anomalies which include gastroschisis, omphalocele and umbilical cord hernia. Recent reports indicate that gastroschisis is increasing in prevalence, whereas omphalocele has remained steady, suggesting that environmental factors may play a part in their pathogenesis. The aim of this study is to review animal teratogen studies resulting in abdominal wall defects to investigate their possible causes. Each report was examined not only for the teratogens causing the defects, but also to carefully identify the defect occurring and its correlation with the known clinical anomalies. We found many discrepancies between the nomenclature used by animal teratology investigators and that used by clinicians. We were able to confirm the induction of gastroschisis by 22 teratogens, omphalocele by 9 teratogens and umbilical cord hernia by 8. There is no doubt that environmental factors may be responsible, at least in part, for all three of the clinical abdominal wall defects. Future studies should take care to appreciate the differences between these anomalies and describe them in detail, so that accurate and meaningful conclusions can be obtained.     

Not gastroschisis or omphalocele or anything in between: a novel congenital abdominal wall defect

Congenital abdominal wall defects occur when normal embryonic development is interrupted and most commonly results in gastroschisis or omphalocele. Other entities, such as ruptured omphalocele, vanishing gastroschisis, and patent omphalomesenteric ducts with prolapse, have also been described and can create a confusing picture. This case of a newborn with a midline abdominal defect and a mass that was intestine-like and arose from the bowel cannot be classified, and no similar reports were found. This suggests a previously undescribed abdominal wall defect with an aberrant colonic appendage.     

用硅胶袋修复巨型脐膨出与腹裂13例报告

目的总结应用硅胶袋分期修复巨型脐膨出和腹裂的治疗经验。方法回顾性分析2003年以来应用硅胶袋进行分期腹壁修补术的11例患儿病例资料。其中巨型脐膨出3例，腹裂8例。均于气管插管全身麻醉下手术，将无菌硅胶袋与腹壁缺损边缘缝合成囊袋状，包裹膨出的脏器，术后逐渐挤压囊袋至内脏还纳入腹腔后去除囊袋，分层关闭腹壁缺损。脐膨出患儿行脐部成形。全部患儿术后均予呼吸机支持2-24h。结果全组患儿膨出脏器均于术后7-10d还纳入腹腔．此时腹壁无明显张力．术后无腹壁切口裂开及腹腔继发感染，伤口恢复良好，生长发育正常。结论采用无菌硅胶袋替代涤纶补片行腹壁修补术，硅胶袋与腹壁缝合后反应小，费用低，是一种安全、疗效可靠的方法。     

脱细胞异体真皮基质补片在新生儿及小儿腹壁重建中的应用

目的探讨使用脱细胞异体真皮基质生物补片重建腹壁的方式治疗新生儿、小儿巨型脐膨出等巨大腹壁缺损病例的可行性。方法作者近期采用脱细胞异体真皮基质生物补片重建腹壁的手术方式,治疗巨型脐膨出11例,医源性巨大腹壁缺损1例,巨大腹壁疝1例,通过生物补片修补腹壁组织缺损,扩大腹腔容积,避免直接缝合关闭腹腔术后腹压急剧升高。结果11例巨型脐膨出患儿中,除1例患儿家长放弃治疗外,其余10例效果良好,随访至今,无一例发生并发症。结论新生儿及小儿巨大腹壁缺损可使用脱细胞异体真皮基质补片重建腹壁,效果良好。     

Gastroschisis and omphalocele: treatments and long-term outcomes

Between February 1994 and April 2004, we treated 40 children with gastroschisis and 26 children with omphalocele. We recorded the course of pregnancy, pre- and post-natal complications, delivery, operation, post-operative therapy, and long-term outcomes. Additionally, we conducted follow-up examinations of 37 of these 66 children (56%). We analysed their abdominal musculature, development, cosmetic result and quality of life. The median duration of follow-up was 6.3 years (range 1–10). In 35/40 children (88%) with gastroschisis and in 18/26 children (69%) with omphalocele, there had been prenatal diagnosis. The average maternal age of 23.9 years in the gastroschisis group was lower than in the omphalocele group (29.9 years). Delivery was by caesarean section in 93% of the gastroschisis group and 65% of the omphalocele group. Outcomes following vaginal delivery were no worse than those after caesarean section. Further, congenital abnormalities were shown in 28% of gastroschisis cases, and were limited to the gastrointestinal tract. Of the omphalocele cases 81% showed further abnormalities. Direct closure of the abdominal wall defect was possible in 31/40 (78%) of the gastroschisis cases and 15/26 (58%) of the omphalocele cases. Mortality in gastroschisis was nil; two children with omphalocele died (8%). Outcomes were better after primary closure than in stepwise reconstruction. Follow-up showed good results in all categories. Developmental delays were rapidly made up after treatment, and 75% of the children had no gastrointestinal problems, or suffered from these rarely. Almost all the children were of normal weight and height, and physical and intellectual development were delayed in only one third of the children. The surgical scar was rated as good or very good in about 80% of the cases. Except for those with severe defects, the children had good ratings for quality of life. Improvements in short-term results of gastroschisis and omphalocele treatment can be attributed to recent developments in prenatal diagnosis and the advancements of centralised perinatal care. Our long-term results clearly demonstrate that initial gastrointestinal problems and developmental delays were made up during the first two years of life. Prenatal counselling can now be more optimistic.     

Prenatal imaging of a fetus with the rare combination of a right congenital diaphragmatic hernia and a giant omphalocele

A co‐existing right congenital diaphragmatic hernia and omphalocele is rare. We present images of a fetus diagnosed with this rare combination of anomalies. Early neonatal death occurred immediately after full‐term birth due to severe respiratory insufficiency. In this case, disturbance of chest wall development due to the omphalocele rather than the diaphragmatic hernia was considered as the main cause of lung hypoplasia. Our experience suggests that caution should be exercised for severe respiratory insufficiency in a neonate with an omphalocele and diaphragmatic hernia, even in the absence of an intra‐thoracic liver, one of the indicators of poor outcome for congenital diaphragmatic hernia.