Pentalogy of cantrell pdf

Pdf first described in 1958 by cantrell, haller and ravitch, cantrell%u2019s syndrome is a rare anomaly which affects the ectopia cordis. Patients with the complete pc together with complex congenital heart disease or extracardiac malformations may have a poor prognosis. Ectopia cordis associated with pentalogy of cantrella case report. Cantrell et al subsequently reported the occurrence of variants of cp in which the ectopia cordis was asso ciated with at least three major defects. A baby with the complete form of pentalogy of cantrell was delivered at 33 weeks of gestation. Duplication of the aldh1a2 gene in association with.

Pentalogy of cantrell an overview sciencedirect topics. The exact cause of pentalogy of cantrell is unknown. Cooccurrence of severe goltzgorlin syndrome and pentalogy of cantrell. The pentalogy of cantrell is an extremely rare phenomenon with an incidence estimated at around 6 per million live births 3. Cantrells pentalogy is a very rare syndrome associating varying degrees of midline wall defects and congenital cardiac anomalies. Pentalogy of cantrell is a rare cluster of congenital anomalies that include omphalocele, cardiac defects, ectopic cordis, and an anterior diaphragmatic defect. In one case the pregnancy was terminated and this patient was excluded from further study. The pentalogy of cantrell is a wide spectrum of associations. Based on this conglomeration of findings, a final diagnosis of pentalogy of cantrell was arrived at. Pentalogy of cantrell pc is a congenital anomaly characterized by a defect in the lower sternum, anterior diaphragm, and anterior abdominal wall. Pdf a baby with the complete form of pentalogy of cantrell was delivered at 33 weeks of gestation. Mutations in genes associated with pentalogy of cantrell the safety and scientific validity of this study is the responsibility of the study sponsor and investigators.

Diastasis recti, hernias, and omphalocele have all been described in conjunction with the pentalogy. 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. Class ii pentalogy of cantrell bmc research notes full. Cantrell syndromea rare complex congenital anomaly frontiers. Pdf pentalogy of cantrell jan strengers and felix haas. We report a 47dayold girl with an incomplete pentalogy of. The pentalogy of cantrell is rare clustering of congenital defects, first described by cantrell and colleagues in 1958. It is described as a defect in midline closure and includes 5 characteristics.

Case 1 was a dichorionic twin pregnancy with only one fetus affected. Cardiac malformations in patients with pentalogy of cantrell and. Full pentalogy of cantrell is a severe and rare syndrome, but incomplete forms with combination of two or three defects were reported frequently. The exact pathogenesis for the pentalogy remains unknown and no specific genetic abnormalities have been correlated.

Pentalogy of cantrell is a rare condition comprising anterior diaphragmatic defect, ventral abdominal wall defect, pericardial defect, intracardiac anomalies and lower sternal defect. Cardiac malformations in patients with pentalogy of cantrell and ectopia cordis. Diagnosis of pentalogy of cantrell in the first trimester. There are limited case reports documented since its first description in 1958 due to either underdocumentation or underrecognition. Pentalogy of cantrell is a very rare congenital syndrome with major anomalies and a very poor prognosis. Pentalogy of cantrell is a rare syndrome, first described by cantrell and coworkers in 1958. Pentalogy of cantrell thoracoabdominal ectopia cordis is a rare congenital syndrome of abdominal wall defect, lower sternal defect, diaphragmatic pericardial defect, anterior diaphragmatic defect, and intracardiac abnormalities. Pentalogy of cantrell is a rare thoraco abdomi nal disruption associating abdominal wall, diaphragm, pericardium, sternum. Mutations in genes associated with pentalogy of cantrell. Pentalogy of cantrell is a rare condition with a reported incidence of cantr ell s pentalogy involved the central nervous system and craniofacial malformations, which included anencephaly, meningocele, cephalocele, h ydrocephaly and e xencephaly. Pentalogy of cantrell is uncommon, and its association with ectopia cordis indicates poor prognosis. At 5 months old, aidan was finally diagnosed with pentalogy of cantrell. Goncalo fimd, ana vrs, catia fcpm, ana pdf, joaquim mdf. We report the prenatal diagnosis of cantrell syndrome in the first trimester.

We waited for months for aidan to be stable enough to endure surgery. Pentalogy of cantrell pc is a rare congenital anomaly involving defects in the anterior diaphragm, supraumbilical abdominal wall, diaphragmatic pericardium, and lower sternum, and other congenital intracardiac abnormalities. Pentalogy of cantrell poc is a lethal multiple congenital anomalies syndrome, characterized by. The pentalogy of cantrell is a rare congenital syndrome characterized by five anomalies. One theory suggests that the symptoms of pentalogy of cantrell occur due to an abnormality in the development of midline embryonic tissue fourteen to eighteen days after conception. Changing findings in pentalogy of cantrell in fetal life.

Abdominal wall defects in pentalogy of cantrell occur above the umbilicus supraumbilical and in the midline, and have a wide range of presentations. Listing a study does not mean it has been evaluated by the u. Cantrell syndrome cs or pentalogy of cantrell is defined as a rare. If you have problems viewing pdf files, download the latest version of adobe reader. 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 postconception. This is an extremely rare condition, and one that exceptionally few babies survive with. The hallmark of this syndrome is ectopia cordis ec with.

Staged repair of pentalogy of cantrell with tetralogy of fallot. The syndrome is characterized by the presence of five major congenital defects involving the diaphragm, abdominal wall, the diaphragmatic pericardium, lower sternum and various congenital intracardiac abnormalities. Pentalogy of cantrell pc is a rare congenital syndrome, often with a poor. Jennings took aidan into surgery along with a heart surgeon. Pentalogy of cantrell is a rare entity of congenital defects involving the abdominal wall, sternum, diaphragm, pericardium and heart. Pentalogy of cantrell is a rare syndrome characterized by 5 distinctive anomalies. The diagnosis of pentalogy of cantrell was made at 11, 16 and 14 weeks. Pentalogy of cantrell nord national organization for. One with you by sylvia day, captivated by you by sylvia day, entwined with you by sylvia day, reflected in you by sylvia day. Prognosis depends on the severity of the defects and the associated cardiac anomalies. Most cases occur randomly for no apparent reason sporadically. First described in 1958 by cantrell, pentalogy of cantrell omim 3850 is an extremely rare and usually lethal congenital malformation, with. Pentalogy of cantrell is a rare thoracoabdomi nal disruption associating abdominal wall, diaphragm, pericardium, sternum. Pentalogy of cantrell is a condition characterized by a combination of midline birth defects that can potentially involve the breastbone.