Pentalogy of cantrell pc is a malformation characterized by defects in the ventral abdominal wall, lower sternum, diaphragmatic pericardium. Patients with the complete pc together with complex congenital heart disease or extracardiac malformations may have a poor prognosis. Pentalogy of cantrell is an unusual form of abdominal wall defect that consists of five penta in ancient greek associated anomalies. Pentalogy of cantrell is a very rare congenital syndrome with major anomalies and a very poor prognosis. Pentalogy of cantrell must be adequately evaluated for appropriate prenatal counselling and postnatal management of individual cases. Most cases are sporadic, which means they occur in people with no family history of the condition and are not thought to be inherited. Her parents could no longer afford transport cost to attend the monthly clinic visits, where the infant was getting free medication refill. It is a very rare congenital anomaly and the prenatal diagnosis is possible in the beginning of second trimester of pregnancy using the conventional ultrasonography. Links to pubmed are also available for selected references. Unfortunately, ultrasound examinations performed in england were reported to be normal. Arteriosclerosis, thrombosis, and vascular biology atvb journal home. Article pentalogy of cantrell or one of its variants. Mutations in genes associated with pentalogy of cantrell. Pentalogy of cantrell definition of pentalogy of cantrell.
Pentalogy of cantrell is a rare syndrome consisting of a spectrum of five structural ventral midline defects, with the combination of an omphalocele and ectopia cordis being the hallmark of the disorder. Pentalogy of cantrell is a rare cluster of congenital anomalies that include omphalocele, cardiac defects, ectopic cordis, and an. Early antenatal ultrasonographic diagnosis is essential as survival depends mostly on the ec, associated cardiac anomalies. Defects of the heart, pericardium, diaphragm, sternum, and anterior abdominal wall are pathognomonic. Pentalogy of cantrell demonstrated by computed tomography in an infant volume 21 issue 6 nasroolla damry, sanjiva pather, sophie m. Files are available under licenses specified on their description page. Although the incidence is low, it is critical to identify it in a timely fashion in order to adequately address all aspects. Researchers want to better understand these types of syndromes and determine if there is a genetic cause.
Pentalogy of cantrell nord national organization for rare. Generally, pentalogy of cantrell is fatal without surgery. Omphalocele is often associated with various abnormalities. Pentalogy of cantrell an overview sciencedirect topics. Celebrities with pentalogy of cantrell diseasemaps. We report a case of pentalogy of cantrell class 1, that showed sternal cleft, left anterolateral diaphragmatic hernia, thoracoabdominal ectopia cordis, diaphragmatic pericardial defect, patent ductus arteriosus and a large omphalocele. Pentalogy of cantrell poc is an extremely rare congenital condition with an incidence of 1. This article presents a case of pentalogy of cantrell and examines the literature to report the most current evidence relative to the embryology and. Prenatal diagnosis of pentalogy of cantrell in the third. Doctors at the national institutes of health clinical center are collecting blood or tissue samples from patients, and their family members, with pentalogy of cantrell and other similar conditions. Pentalogy of cantrell nord national organization for.
A baby with the complete form of pentalogy of cantrell was delivered at 33 weeks of gestation. These birth defects can potentially involve the breastbone sternum, the muscle that separates the chest cavity from the abdomen and aids in breathing diaphragm, the thin membrane that. 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. Abdominal wall defects in pentalogy of cantrell occur above the umbilicus supraumbilical. A 3d ultrasound can help to enhance the visualisation of the fetal anomalies. Cantrell pentaloji ve fokomelia birlikteligi saptanan olgunun antenatal tan. Management of pentalogy of cantrell with complete ectopia. There are five characteristic findings in pentalogy of cantrell.
Sep 29, 2014 because pentalogy of cantrell is so rare and the underlying cause is unclear, the exact recurrence risk for the condition is not known. All structured data from the file and property namespaces is available under the creative commons cc0 license. Pentalogy of cantrell consists of the following five major features, although additional features may exist to a various extent. Class ii pentalogy of cantrell bmc research notes full text.
Prenatal diagnosis of a case of pentalogy of cantrell with spina bifida. Even though a fetal diagnosis was made at 14 weeks, parents have decided to continue with the pregnancy. Pentalogy of cantrell is a rare disorder that is present at birth congenital. Changing findings in pentalogy of cantrell in fetal life. It is described as a defect in midline closure and includes 5 characteristics. Pentalogy of cantrell is characterized by a combination of birth defects. Jun 07, 2015 pentalogy of cantrell is a rare syndrome that causes defects involving the diaphragm, abdominal wall, pericardium, heart and lower sternum this video contains general medical information if in. 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. Prenatal diagnosis of pentalogy of cantrell prague medical report vol. Review of patient record, ultrasound images and postnatal management. In both of these cases, imaging and autopsy findings of midline supraumbilical abdominal wall defects, defects in the pericardium, and defects of the lower sternum clearly indicate a diagnosis of pentalogy of cantrell or one of its variants.
For the congenital heart condition, see pentalogy of cantrell. Mar 01, 2010 full pentalogy of cantrell is a severe and rare syndrome, but incomplete forms with combination of two or three defects were reported frequently. Pentalogy of cantrell and associated midline anomalies. Complete and incomplete pentalogy of cantrell ncbi nih. Cooccurrence of severe goltzgorlin syndrome and pentalogy of cantrell. A syndrome of congenital defects involving the abdominal wall, sternum, diaphragm, pericardium, and heart. To our knowledge, cantrells pentalogy with thoracolumbar. Cantrell s pentalogy or syndrome volume 12 issue 1 feico j. Pentalogy of cantrell pc is a congenital anomaly characterized by a defect in the lower sternum, anterior diaphragm, and anterior abdominal wall. Case 1 was a dichorionic twin pregnancy with only one fetus affected. Long term survival of patients with cantrells pentalogy is extremely rare.
Pentalogy of cantrell associated with thoracoabdominal. Successful surgery has been accomplished despite its high mortality rate, but the surviving cases did not have, or had only minor degrees of, ectopia cordis with small omphaloceles and simple intracardiac anomalies. Cantrells syndrome can be diagnosed as early as the first trimester using a twodimensional 2d ultrasound. May 25, 2004 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. Facebook is showing information to help you better understand the purpose of a page. Pentalogy of cantrell pc is a rare congenital anomaly characterized by changes in the mesodermal median structures and congenital heart disease, often with a poor prognosis. A pentalogy from greek penta, five and logia, discourse is a compound literary or narrative work that is explicitly divided into five parts. Pentalogy of cantrell is characterised by a combination of severe defects in the middle of the chest including the sternum, diaphragm, heart, and abdominal wall.
Its variable phenotype is divided into three categories 2. These birth defects can potentially involve the breastbone sternum, the muscle that separates the chest cavity from the abdomen and aids in breathing diaphragm, the thin membrane that lines the heart pericardium, the abdominal wall, and the heart. Singh n, bera ml, sachdev ms, aggarwal n, joshi r, kohli v. Description, free intestinal loops, firm mass including bowel, liver, etc. Pentalogy of cantrell with doubleoutlet right ventricle. Pdf pentalogy of cantrell jan strengers and felix haas. Pentology of cantrell pc is a rare syndrome with unknown etiology presenting with pentad of midline, upper abdominal wall disorder, defect of lower sternum, anterior diaphragmatic defect, pericardial abnormality and congenital abnormalities of the heart as explained by toyama. Especially, complete thoracic ectopia cordis, in addition to complex heart disease, are known to have poor prognosis. 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 genetic and rare diseases information. Get a printable copy pdf file of the complete article 169k, or click on a page image below to browse page by page. The pentalogy of cantrell is an extremely rare phenomenon with an incidence estimated at around 6 per million live births 3.
Prenatal diagnosis of a case of pentalogy of cantrell with. Celebrities with pentalogy of cantrell what famous people have pentalogy of cantrell. Pentalogy of cantrell is a condition characterized by a combination of midline birth defects that can potentially involve the breastbone sternum. In one case the pregnancy was terminated and this patient was excluded from further study. A baby with isolated omphalocele, one of the defects included in the pentalogy of cantrell. Because this condition can drastically affect development, the colorado fetal care center is here to offer families support from our highly experienced team. Pentalogy of cantrell demonstrated by computed tomography in. Pentalogy of cantrell or thoracoabdominal syndrome is a rare syndrome that causes defects involving the diaphragm, abdominal wall, pericardium, heart and lower sternum. Pdf a baby with the complete form of pentalogy of cantrell was delivered at. The hallmark of this syndrome is ectopia cordis ec with omphalocele.
Sylvia day goodreads author shelved 2 times as pentalogy avg rating 4. Mortality of the disease complex is high, and treatment, when appropriate, revolves around surgical correction of the associated defects. Pdf first described in 1958 by cantrell, haller and ravitch, cantrell%u2019s syndrome is a rare anomaly which affects the ectopia cordis. Listing a study does not mean it has been evaluated by the u. The pentalogy of cantrell is a wide spectrum of associations. Although modern use of the word implies both that the parts are reasonably selfcontained and that the. Staged repair of pentalogy of cantrell with tetralogy of fallot. Pentalogy of cantrell is a constellation of five congenital defects that pose a unique challenge for surgeons.
Neither first trimester screening, nor tripletest was performed. Pentalogy of cantrell is a rare syndrome, first described by cantrell and coworkers in 1958. Find out which celebrities, athletes or public figures have pentalogy of cantrell. Pentalogy of cantrell with left ventricular diverticulum. The diagnosis of pentalogy of cantrell was made at 11, 16 and 14 weeks.