Supraumbilical Abdominal Wall Defect Research Articles

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Ectopia cordis is an extremely rare lethal anomaly characterized with heart located partially or completely outside the thoracic cavity. 0t can be isolated anomaly or as a component of complex syndromes including supraumbilical abdominal wall defect, deficiency of the anterior diaphragm and congenital intracardiac defects as shown in the figure. Further details can be seen in the article by Başar et al. in this issue. image

Pentalogy of Cantrell with encephalocele – A case report with review of literature

Pentalogy of Cantrell is a rare structural disorder. It is a combination of congenital defects in the midline comprising of supraumbilical abdominal wall defect, defect in the lower sternum, deficient anterior diaphragm, defect in diaphragmatic pericardium and intracardiac defects. It is proposed to result from an insult occurring as early as 14 to 17 day of embryonic life. It involves the ventral midline due to disruption of midline mesenchyme. Etio-pathogenesis is still largely unknown. The insult could be environmental or disruption of a single gene, either autosomal or X linked. Very rarely Cantrell’s syndrome is associated with neural tube disorders. Here, we report one such rare case of Pentalogy of Cantrell.

Successful atrial septal defect transcatheter closure in a patient with pentalogy of Cantrell and ectopia cordis.

Pentalogy of Cantrell (PC) is an extremely rare multiple congenital anomaly syndrome, characterized by the presence of five major malformations: midline supraumbilical abdominal wall defect (which results in omphalocele), lower sternal defect, diaphragmatic pericardial defect, anterior diaphragmatic defect and various intracardiac malformations (mostly ventricular septal defect) [1]. Additionally, although not part of the classic PC, some severe cases have been associated with herniation of the heart through the diaphragmatic defect, resulting in ectopia cordis (EC) [2]. Such a diagnosis carries a disastrous prognosis without surgical correction or palliation [3]. Furthermore, miscellaneous intracardiac abnormalities even worsen the survival. Multiple chest interventions and complex anatomy impede their surgical treatment; therefore, the transcatheter approach may be the only possibility. According to our best knowledge, no percutaneous atrial septal defect (ASD) closure has been reported in a patient with PC.

Incomplete Pentalogy of Cantrell: A Case Report

Cantrell's Pentalogy is a rare congenital malformation consists of supraumbilical abdominal wall defect, defect in the lower part of sternum, agenesis of anterior portion of diaphragm, an absence of the diaphragmatic part of the pericardium and intracardiac malformation. This case report presents a female neonate, who was born at 40 weeks of gestation weighing 2400 gm and was admitted 4 hours after delivery with the complaints of something coming out from chest. On physical examination her vital signs were within normal limit, she had a systolic murmur on heart at lower left sternal area and there was a vascular structure present on the upper part of abdomen which was pulsatile and pulsation was synchronized with cardiac pulsation. On investigation chest X-ray lateral view showed absence of lower part of sternum, echocardiography findings were different in different institutes. Echocardiography findings at Mymensingh medical college hospital (MMCH) were large VSD (Ventriculo septal defect), ASD (Atrial septal defect) and rotated heart. On colour Doppler ultrasonogram at MMCH showed there were VSD, ASD, and a small epigastric swelling which was vascular and appears to be attached to the apex of the heart. On the other hand echocardiography findings of LAB AID hospital in Dhaka were Dextrocardia, complete AV (atrio ventricular) canal defect, almost common atrium, almost single ventricle, common AV valve, double outlet right ventricle (DORV), Cortriatriatum, mild A-V valve regurgitation and severe pulmonary hypertension (PAH). Echocardiography was also done at national heart foundation hospital in Dhaka. Findings were situs solitus, mesocardia to dextrocardia, DORV, large VSD, mild mitral inflow, mild TR (triuspid regurgitation), good LV (left ventricle) and RV (right ventricle) systolic function. Cardiologists at Dhaka in Bangladesh were suggested for surgery. Then the patient was consulted at Naryan Institute of Cardiac Science, Chennai in India. Here echocardiography findings were dextroversion/dextrocardia, DILV (Double inlet left ventricle), large inlet VSD with bidirectional shunt, mild TR, severe PAH with good ventricular function. Cardiologists in India were given comment about this patient. This patient was highly risky for surgery. They advised medical treatment and requested to review after one year. By taking medical treatment patient condition is well except failure to thrive and cyanosis develops during feeding and crying according to the statement of guardian of the patient. This case has 3 criterias among the five criteria of Cantrell's Pentalogy. So, it is incomplete Pentalogy of Cantrell.

CANTRELL PENTALOJİSİ: OLGU SUNUMU

Cantrell’s pentalogy is a rare congenital malformation which consists of the supraumbilical abdominal wall defect, the defect in the lower sternum, the agenesis of the anterior portion of the diaphragm, the absence of the diaphragmatic part of the pericardium, and the structural cardiac anomaly. This congenital malformation has a high mortality rate of in the postnatal period. Its etiopathogenesis is not yet certain. It is thought to be due to the lack or inadequacy of the migration of lateral mesoderm in the early weeks of pregnancy. Five main phenotypic findings of Cantrell’s pentalogy may not always be present in the affected cases because of the alterations in the migration defects. The subjects diagnosed with Cantrell’s pentalogy can be examined in three categories based on the phenotypic features. This is a case report of a 13-week-old pregnancy which is diagnosed with Cantrell’s pentalogy due to the presence of cystic hygroma, ectopia cordis, omphalocele and atrioventricular septal defect.

The modern methods of X-Ray based diagnostic in cases of ectopia cordis associated with pentalogy of Cantrell

Pentalogy of Cantrell with ectopia cordis is an extremely rare and lethal congenital anomaly included congenital hearth disease (CHD), midline supraumbilical abdominal wall defect, defect of lower sternum part, deficiency of the anterior diaphragm, a defect in the diaphragmatic pericardium. The complexity of this syndrome is usually incompatible with life. Depending on the location of the protruding heart and on the extent of the body wall defect, ectopia cordis may be grouped into cervical, thoracic, thoracoabdominal, or abdominal types. The heart mostly uncovered, covered with a serous membrane less often, and covered with skin rare. Depending on combination defects pentalogy of Cantrell classified for 3 different classes by Toyama (classified in 1972): 1 class – complete syndrome (all five defects), 2 class – probable syndrome (included intracardial defect and ventral abdominal wall defect) 3 class – incomplete syndrome (with various combinations of defects present, including a sternal abnormality). Presented clinical case newborn pentalogy of Cantrell first Toyama class. We used X-Ray for firstly diagnostic, for visualization CHD was performed CT. For postnatal diagnostic CHD are used Echo and CT. CT allows graphically to see the type of CHD and predict a surgical treatment. The strategy of surgical treatment and further prognose are depend on combination of anomalies within the framework of pentalogy of Cantrell. By CT we determined atresia of the pulmonary artery with major aorto-pulmonary collateral arteries (MAPCA), ventricular and atrial septal defects.

Pentalogy of Cantrell and anaesthesia: a case report

Pentalogy of Cantrell, a rare congenital thoracoabdominal disruption, consists of a supraumbilical abdominal wall defect, lower sternal defect, agenesis of the anterior portion of the diaphragm, an absence of the diaphragmatic part of the pericardium, and a malformation of the heart, typically as an ectopia cordis. This case report presents a female neonate, 35 weeks post-conception, weighing 2080 g who presented on day four of life for anaesthesia. She had the five anatomical defects characteristic of Pentalogy of Cantrell.

Diagnosis of pentalogy of cantrell in the first trimester using transvaginal sonography and color Doppler.

We report the prenatal diagnosis of Cantrell syndrome in the first trimester. During a routine transabdominal ultrasonographic examination, a midline supraumbilical abdominal wall defect including herniated liver and ectopia cordis with a large omphalocele containing the intestines and cystic hygroma was incidentally identified at the 12th week of gestation. A transvaginal sonography examination revealed a severe lumbosacral scoliosis in addition to the inability to visualize the abdominal aorta which was indicative of a severe intracardiac defect. The parents opted for pregnancy to be terminated. In this case report, we discuss the complementary role of transvaginal sonography and Doppler imaging in the diagnosis of Cantrell syndrome in early pregnancy.

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.

Prenatal diagnosis of pentalogy of Cantrell using three-dimensional ultrasound

In 1958, Cantrell et al [1] described a syndrome called the pentalogy of Cantrell (POC), consisting of deficiency of the anterior diaphragm, midline supraumbilical abdominal wall defect, defect in the diaphragmatic pericardium, congenital intracardiac abnormalities, and defect of the lower sternum. Although prenatal detection of POC has been reported previously, to date no prenatal illustration of POC by threedimensional (3D) ultrasound (US) has been described [2]. The application of 3D US in malformations, especially in the evaluation of small parts, appears to assist in prenatal diagnosis and to be clinically useful. The multiplanar planes proved most helpful in delineating the exact nature and anatomic level of the defect [3]. Here, we reported two cases of POC with different presentation diagnosed using two dimensional (2D) and three dimensional (3D) ultrasound (US). Case 1: A 19-year-old woman, gravida 1, para 0, was transferred to our hospital because of fetal congenital anomaly at 15 weeks of gestation. US revealed a crownerump length of 87.3 mm and the fetal heart outside the thorax by Doppler US. Omphalocele and marked spinal curvature were also observed (Fig. 1). After discussion with the patient and family, they decided on termination of the pregnancy. The thoracoabdominal ectopia cordis, left cleft sternum and abdominal wall defect, omphalocele, scoliosis, umbilical cord cyst, and polydactyly of the left hand were grossly observed in the arbutus (Fig. 2). The histopathologic examination at autopsy demonstrated the previously mentioned findings and left diaphragm deficiency with internal organs exposure. Microscopically, the internal organs were well developed. Moreover, the abortus revealed normal female karyotype. Case 2: A 32-year-old woman, gravida 1, para 0, was also transferred to our hospital for fetal abdominal wall defect at 13

A case report of ectopia cordis and omphalocele

A rare congenital defect in fusion of the anterior chest wall resulting in an extrathoracic location of the heart. Cantrell's pentalogy is a congenital anomaly resulting from embryologic development defect and consists of the following: A deficiency of the anterior diaphragm, a midline supraumbilical abdominal wall defect, a defect in the diaphragmatic pericardium, congenital intracardiac abnormalities, and a defect of the lower sternum. Here we report a rare case of ectopic cordis with omphalocele.

Pentalogy of Cantrell: A Report of One Case at the Yaounde Central Hospital in Cameroon

ABSTRACT Pentalogy of Cantrell is a rare multiple congenital malformation syndrome characterized by a combination of five features: A midline supraumbilical abdominal wall defect; a defect of the lower sternum; a defect of the diaphragmatic pericardium; deficiency of the anterior diaphragm and congenital cardiac anomalies. These defects can be diagnosed as early as the first trimester of pregnancy. The complexity of these anomalies, in particular the presence of any cardiac defects, determines the management as well as the prognosis. We report a case of pentalogy of Cantrell diagnosed by ultrasound at 32 weeks of gestational age, the fetus died 3 hours after delivery. How to cite this article Ymele FF, Fouedjio JH, Kenfack B, Mehta M, Mbu RE. Pentalogy of Cantrell: A Report of One Case at the Yaounde Central Hospital in Cameroon. Donald School J Ultrasound Obstet Gynecol 2012;6(4):412-414.

Thoracoschisis with limb agenesis

A rare case of thoracoschisis, diaphragmatic and supraumbilical abdominal wall defect with right upper limb agenesis in a neonate is reported.

Left Ventricle Diverticulum with Partial Cantrell's Syndrome.

Cantrell syndrome is a very rare congenital disease associating five features: a midline, upper abdominal wall disorder, lower sternal abnormality, anterior diaphragmatic defect, diaphragmatic pericardial abnormality, and congenital abnormalities of the heart. In this paper, we report a case of partial Cantrell's syndrome with left ventricular diverticulum, triatrial situs solitus, ventricular septal defect, dextrorotation of the heart, an anterior pericardial diaphragmatic defect, and a midline supraumbilical abdominal wall defect with umbilical hernia. The 5-month-old patient underwent a successful cardiac surgical procedure. A PTFE membrane was placed on the apex of the heart to facilitate reopening of the patient's chest. Postoperative course was uneventful. The patient was discharged with good clinical condition and with a normal cardiac function.

Co‐occurrence of severe Goltz–Gorlin syndrome and pentalogy of Cantrell – Case report and review of the literature

Goltz-Gorlin syndrome is a highly variable disorder affecting many body parts of meso-ectodermal origin. Mutations in X-linked PORCN have been identified in almost all patients with a classical Goltz-Gorlin phenotype. The pentalogy of Cantrell is an infrequently described congenital disorder characterized by the combination of five anomalies: a midline supra-umbilical abdominal wall defect; absent or cleft lower part of the sternum; deficiency of the diaphragmatic pericardium; deficiency of the anterior diaphragm; and congenital heart anomalies. Etiology and pathogenesis are unknown. We report on an infant with findings fitting both Goltz-Gorlin syndrome (sparse hair; anophthalmia; clefting; bifid nose; irregular vermillion of both lips; asymmetrical limb malformations; caudal appendage; linear aplastic skin defects; unilateral hearing loss) and the pentalogy of Cantrell (absent lower sternum; anterior diaphragmatic hernia; ectopia cordis; omphalocele). The clinical diagnosis Goltz-Gorlin syndrome was confirmed molecularly by a point mutation in PORCN (c.727C>T). The presence of molecularly confirmed Goltz-Gorlin syndrome and pentalogy of Cantrell in a single patient has been reported twice before. The present patient confirms that the pentalogy of Cantrell can be caused in some patients by a PORCN mutation. It remains at present uncertain whether this can be explained by the type or localization of the mutation within PORCN, or whether the co-occurrence of the two entities is additionally determined by mutations or polymorphisms in other genes, environmental factors, and/or epigenetic influences.

Prenatal diagnosis of vertebral deformities associated with pentalogy of Cantrell: The role of three‐dimensional sonography?

Pentalogy of Cantrell was diagnosed in a fetus at 14 weeks of gestation, on routine two-dimensional sonographic examination with Doppler imaging, which revealed a midline supraumbilical abdominal wall defect including herniated liver, an ectopia cordis without intracardiac anomalies, and a large omphalocele containing intestines. Although left unilateral club foot deformity was also detected as an associated anomaly in the same examination, severe lumbar lordoscoliosis was only detected by using three-dimensional sonography because of the spatial configuration of the deformity. After termination of the pregnancy, postnatal inspection of the fetus confirmed the diagnosis of pentalogy of Cantrell associated with skeletal deformities and revealed low implant ears as an additional finding. Although two-dimensional sonography with Doppler imaging is sufficient to diagnose pentalogy of Cantrell, it may fail to show the complex vertebral deformities and three-dimensional sonography may assist in visualizing the defect accurately.

Pentalogy of Cantrell: six new cases

Cantrell's pentalogy is a rare multiple malformation syndrome consisting of supraumbilical abdominal wall defect, sternal defect, pericardial defect, anterior diaphragmatic defect and heart malformation. Prenatal ultrasound findings and malformations described during autopsy of the Cantrell's pentalogy cases diagnosed between January 1991 and June 2009 in our institute were reviewed. A literature research was conducted to analyze the prevalence and prenatal detection rate of the five previously described malformations and ectopia cordis in the Cantrell's pentalogy cases. Six cases of Cantrell's pentalogy were diagnosed during the study period in our department. Sonography detected multiple malformations in 3 cases, and isolated malformation in 3 cases. Analyzing the data of 49 Cantrell's pentalogy cases altogether showed that, beside abdominal wall defect and ectopia cordis which had the highest prenatal detection rate (83% and 91% with a prevalence of 94% and 69%, respectively), sternal defect and anterior diaphragmatic hernia were also present in a large number of the cases (80% and 73% respectively). Sonographic identification of the sternal defect or diaphragmatic hernia may help to differentiate Cantrell's pentalogy from malformations part of the syndrome but occurring as isolated defects.

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.

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.

Syndromes and Disorders Associated with Omphalocele (II): OEIS Complex and Pentalogy Of Cantrell

Omphalocele-exstrophy-imperforate anus-spinal defects (OEIS) complex is characterized by a combination of omphalocele, exstrophy of the bladder, an imperforate anus, and spinal defects. Pentalogy of Cantrell is characterized by a combination of a midline supraumbilical abdominal wall defect, a defect of the lower sternum, a defect of the diaphragmatic pericardium, a deficiency of the anterior diaphragm, and congenital cardiac anomalies. This article provides a comprehensive review of OEIS complex and pentalogy of Cantrell, including the pathogenesis, prenatal diagnosis, differential diagnosis, and associated malformations. Omphalocele is an important sonographic marker for OEIS complex and pentalogy of Cantrell. Prenatal detection of an abdominal wall defect associated with multiple midline defects should alert one to the possibility of OEIS complex and pentalogy of Cantrell and prompt the genetic investigation and counseling of the disorders.