The patient was admitted to neonatal intensive care unit. The components of cantrells syndrome are defined as. Jennings took aidan into surgery along with a heart surgeon. It is believed that fetal edema was due to cardiac failure. Especially, complete thoracic ectopia cordis, in addition to complex heart disease, are known to have poor prognosis. Ectopia cordis associated with pentalogy of cantrella case report. Pentalogy of cantrell by visualization of extrathoracic fetal heart beats figure 1 red arrow, extraabdominal liver, and a ventral wall defect figure 1 blue arrow. A fetal ultrasound suggested pentalogy of cantrell. Frontiers cantrell syndromea rare complex congenital. Files are available under licenses specified on their description page. Pentalogy of cantrell is comprised of 1 midline supraumbilical abdominal defect, 2 sternal fusion defects, 3 deficiency or absence of the diaphragmatic pericardium, 4 deficiency of the anterior diaphragm, and 5 congenital cardiac disease atrial septal defect asd, ventricular septal defect vsd, tetralogy of fallot. Pentalogy of cantrell is a high mortality congenital anomaly first described by cantrell and colleagues in 1958, who reported 5 neonates with this anomaly.
It comprises of the following five characteristics. Class ii pentalogy of cantrell bmc research notes full text. Pentalogy of cantrell is a rare entity of congenital defects involving the abdominal wall, sternum, diaphragm, pericardium and heart. A baby with the complete form of pentalogy of cantrell was delivered at 33 weeks of gestation.
Pentalogy of cantrell genetic and rare diseases information. The incomplete pentalogy of cantrell a case report. The pentalogy of cantrell is rare clustering of congenital defects, first. This is an extremely rare condition, and one that exceptionally few babies survive with. Long term survival of patients with cantrell s pentalogy is extremely rare. The hallmark of this syndrome is ectopia cordis ec with. Pentalogy of cantrell pc is a malformation characterized by defects in the ventral abdominal wall, lower sternum, diaphragmatic pericardium. The pentalogy of fallot is a variant of the more common tetralogy of fallot, comprising the classic four features with the addition of an atrial septal defect or patent ductus arteriosus. The syndrome has never been reported in tanzania, although may have been reported. A 14monthold girl with pentalogy of cantrell, a very rare congenital syndrome characterized by an epigastric omphalocele and malformations of the heart, sternum, pericardium, and diaphragm, underwent echocardiography and multidetector computed tomography before surgical repair of these deformities was attempted.
Embryology of ectopia cordis and pentalogy of cantrell. Pentalogy of cantrell is defined by the association of five anomalies. 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. Pentalogy of cantrell poc is an extremely rare congenital condition with an incidence of 1.
Intracardiac abnormalities fetal abdomen pentalogy of cantrell us findings midline anterior wall defect. The components of cantrell s syndrome are defined as. 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. Diagnosing most of the anomalies in this rare syndrome can be accomplished using conventional modalities in radiology, but difficulties may arise determining diaphragmatic continuity. Early in the 6th week, the sternum is represented by concentrations of mesenchyme in two parallel primordia, the sternal bars, at some distance from the midline. A deficiency of the anterior diaphragm, a midline supraumbilical abdominal wall defect, a defect in the diaphragmatic pericardium, congenital intracardiac. Pentalogy of cantrell is a rare disorder in which patients have a combination of severe defects of the sternum, diaphragm, heart and abdominal wall. The pentalogy of cantrell is a rare midline developmental field complex often with a dismal outcome. Journal of clinical neonatology pentalogy of cantrell.
Pentalogy of cantrell must be adequately evaluated for appropriate prenatal counselling and postnatal management of individual cases. Pentalogy of cantrell beckwithwiedemann syndrome trisomy,14,15,18 smaller defect without liver has higher risk of chromosomal abnormalities mortality 25% due to chromosomal abnormalities. Cantrell syndrome cs or pentalogy of cantrell is defined as a rare condition involving a midline anterior abdominal wall defect, a distal sternal. Mutations in genes associated with pentalogy of cantrell. Jul 29, 2015 pentalogy of cantrell is a rare syndrome, first described by cantrell and coworkers in 1958.
Few live births of the complete pentalogy have been described. Pentalogy of cantrell is a rare condition described in humansbut not yet reported in calves. Concomitant exencephaly and limb defects associated with. In the presence of these abnormalities, obstetricians should consider pentalogy of cantrell.
This article is from journal of medical case reports, volume 7. The pc is an extremely rare and usually lethal anomaly. Pentalogy of cantrell nord national organization for. 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. However, because prognosis depends on the extent of the defect, anatomic assessment is crucial for optimal parental counseling and decision. Not all cases of pentalogy of cantrell present with these 5 classical findings 1,2. Unfortunately, ultrasound examinations performed in england were reported to be normal. 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 an extremely rare pathological condition present at birth which is characterized by certain birth defects which usually involve the sternum or the breast bone and the diaphragm. In 1958, cantrell et al described a syndrome in which a ventral anterior diaphragmatic hernia occurred in association with an omphalocele.
The first description of the pentalogy was made by cantrell et al. Its incidence is approximately 1 in 100,000 births, and affects males disproportionately, at a ratio of 2 to 1. Pdf pentalogy of cantrell jan strengers and felix haas. Based on echocardiography, the animal was diagnosed with pentalogy of fallot, whereas necropsy revealed the presence of cantrells pentalogy with taussigbing syndrome and situs inversus of the liver. Ultrasonographic diagnosis of fetuses with pentalogy of. This is a temporary file and hence do not link it from a website, instead link the url of this page if you wish to link the pdf file. The pentalogy of cantrell is an extremely rare phenomenon with an incidence estimated at around 6 per million live births 3. Complete and incomplete pentalogy of cantrell ncbi nih. Pentalogy of cantrell poc is a lethal multiple congenital anomalies syndrome, characterized by the presence of 5 major malformations. First described in 1958, the pentalogy of cantrell poc is a congenital syndrome consisting of cardiac anomalies combined with defects of the lower sternum, anterior abdominal wall, and the anterior and pericardial diaphragm. Mr imaging of pentalogy of cantrell variant with an intact. Cantrell pentalojisi pentalogy of cantrell 2 history and definition cantrells syndrome was first defined by cantrell, haller, and ravitch in 1958. Simon cowell chokes up while her sick dad watches her sing from the hospital agt 2017 duration.
Pdf first report of pentalogy of cantrell in a calf. General edema and ascites were present, therefore peritoneal cavity puncture was done immediately after birth with decompression of 80 ml of exudative. Toyama 2 suggested the following classification of the pentalogy of cantrell. Assessment of pentalogy of cantrell using 3d multidetector. Pentalogy of cantrell pc is a rare congenital syndrome, often with a poor.
Cantrell s syndrome can be diagnosed as early as the. Pentalogy of cantrell is a condition characterized by a combination of midline birth defects that can potentially involve the breastbone sternum. We present a case of a neonate with the stigmata for pentalogy of cantrell with the exception of diaphragmatic and pericardial defects. Cantrell s pentalogy is a congenital defect, described more than 50 years ago by cantrell, haller and ravitch. Although the pathogenesis of this syndrome is not well understood, early embryologic developmental failure of a segment of the lateral. Pentalogy of cantrell or thoracoabdominal syndrome is a rare congenital syndrome characterized by multiple malformation that affect in particular the diaphragm, the abdominal wall. Cantrell syndrome cs or pentalogy of cantrell is defined as a rare condition involving a midline anterior abdominal wall defect, a distal sternal cleft, a defect of the anterior diaphragm, and a defect of the apical pericardium with pericardioperitoneal communication, as well as intracardiac anomalies. In 1972, toyama classified cantrells pentalogy into 3 different groups based on the expression of symptoms. Pentalogy of cantrell is a rare, congenital disorder characterized by lower sternal defects, diaphragmatic defect, pericardial defect, supraumbilical abdominal wall abnormalities, andor intracardiac defects. Ultrasound diagnosis during the first trimester of prenatal life is possible, and termination of pregnancy is usually. Cantr ell s pentalogy involved the central nervous system and craniofacial malformations, which included anencephaly, meningocele, cephalocele, h ydrocephaly and e xencephaly. Pirasteh pentalogy of cantrell with ectopia cordis. It is characterized by a combination of birth defects. Sep 11, 2009 at 5 months old, aidan was finally diagnosed with pentalogy of cantrell.
Pentalogy of cantrell a term used to describe the association of 5 anomalies. Accurate, early diagnosis of components of this syndrome is vital for. Cantrell pentalojisi pentalogy of cantrell 2 history and definition cantrell s syndrome was first defined by cantrell, haller, and ravitch in 1958. The collective defects result from failure of either differentiation or migration of mesenchymal or mesodermal structures during the embryonic phase of development. The cantrells syndrome that is also known as the pentalogy of cantrell pc is often found in association with ec. Pentalogy of cantrell is a rare disorder that is present at birth congenital. Cantrell s syndrome can be diagnosed as early as the first trimester using a twodimensional 2d ultrasound. Casereport prenatal diagnosis of cantrells pentalogy associated with agenesis of left limb in a twin pregnancy yigitcakiroglu,emekdoger,suleyildirimkopuk. This report describes the diagnostic evaluation in a oneweekold, female simmental twincalf with the anamnesis of umbilical hernia. 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. Pentalogy of cantrell demonstrated by computed tomography in an infant volume 21 issue 6 nasroolla damry, sanjiva pather, sophie m. Pentalogy of cantrell an overview sciencedirect topics. 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 is a rare multiple congenital malformation syndrome characterized by a combination of features. Dec 30, 20 the pentalogy of cantrell is rare clustering of congenital defects, first described by cantrell and colleagues in 1958. What is pentalogy of cantrellcausessymptomstreatment. Based on echocardiography, the animal was diagnosed with pentalogy of fallot, whereas necropsy revealed the presence of cantrell s pentalogy with taussigbing. In pentalogy of cantrell, the heart has a normal location in the thorax, which is different from what occurs with ectopia cordis, where the heart is located ectopically. There are five characteristic findings in pentalogy of cantrell. 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. The complete pentalogy and its variants have been described in the literature. Pentalogy of cantrell is a very rare congenital syndrome with major anomalies and a very poor prognosis. Case report an 18yearold female in foster care whose past medical history was unremarkable except for asthma and a previous abortion was referred to our institution during her second trimester of pregnancy. We waited for months for aidan to be stable enough to endure surgery. A syndrome of congenital defects involving the abdominal wall, sternum, diaphragm, pericardium, and heart.
Although modern use of the word implies both that the parts are reasonably selfcontained and that the structure was intended by the author, historically, neither was necessarily true. Prenatal diagnosis of a case of pentalogy of cantrell with. Pentalogy of cantrell is an unusual form of abdominal wall defect that consists of five associated anomalies, including. The typical form of the pentalogy includes all these five defects. Listing a study does not mean it has been evaluated by the u. Duplication of the aldh1a2 gene in association with pentalogy. Pentalogy of cantrell pc is an extremely rare multiple congenital malformation syndrome and was first described in 1958 by james r. This syndrome, called the pentalogy of cantrell pc, consists of the following. Weakness, anaemia, tachycardia and a systolic left sided murmur were signifi cant clinical findings. Surgical treatment is possible with internalisation of the heart, repair of associated intracardiac anomalies and repair of the thoracoabdominal defect. Abdominal wall defects in pentalogy of cantrell occur above the umbilicus supraumbilical and in the midline, and have a wide range of presentations.
The pentalogy of cantrell was first described in 1958. All structured data from the file and property namespaces is available under the creative commons cc0 license. Pentalogy of cantrell is a rare disorder that is present at birth. Prenatal diagnosis of cantrells pentalogy associated with. Pentalogy of cantrell pc is a congenital anomaly characterized by a defect in the lower sternum, anterior diaphragm, and anterior abdominal wall. Pdf first described in 1958 by cantrell, haller and ravitch, cantrell%u2019s syndrome is a rare anomaly which affects the ectopia cordis. We present a newborn qualifying for cantrell s pentalogy with an abdominal wall defect, a. Prenatal diagnosis of pentalogy of cantrell prague medical report vol.
We report the case of a male newborn with type 2 cs diagnosed during intrauterine life. The pentalogy of cantrell is characterized by ectopia cordis, defects of the lower sternum, anterior diaphragm, supraumbilical portion of the anterior abdominal wall, and pericardium, as well as heart defects. Cantrell pentaloji ve fokomelia birlikteligi saptanan olgunun antenatal tan. Pentalogy of cantrell is characterized by a combination of birth defects. A 3d ultrasound can help to enhance the visualisation of the fetal anomalies. Its variable phenotype is divided into three categories 2. 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. A local case of pentalogy of cantrell in 20 clinical. Similarly, turner syndrome can be detected on ultrasound but initial findings are less specific than with pentalogy of cantrell. It is comprised of congenital heart disease and midline defects. The exact pathogenesis for the pentalogy remains unknown and no specific genetic abnormalities have been correlated. 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.
Pdf a baby with the complete form of pentalogy of cantrell was delivered at 33 weeks of gestation. Approximately 185 cases have been reported around the world. Cantrell haller rawitch syndrome, pentalogy syndrome, thoracoabdominal ectopia cordis and peritoneopericardial diaphragmatic hernia. May 01, 2007 pentalogy of cantrell is a rare thoraco. Neither first trimester screening, nor tripletest was performed.
Often the spectrum of the original pentalogy of cantrell is not complete. Cantrell in 1958 first described the full spectrum of pc. Review of patient record, ultrasound images and postnatal management. Available formats pdf please select a format to send. We report a case of pentalogy of cantrell class 1, that showed sternal cleft, left anterolateral diaphragmatic hernia, thoraco. Doctors at the national institutes of health clinical center are collecting blood or tissue. Management of pentalogy of cantrell with complete ectopia. Trisomy 18 with cantrell pentalogy in a stillborn infant. The hallmark of this syndrome is an omphalocele associated with ectopia cordis ec. Pentalogy of cantrell has also been reported in association with the chromosome abnormalities trisomy 18, trisomy , and turner syndrome, which usually occur by chance. We report a 47dayold girl with an incomplete pentalogy of.131 152 40 158 873 1432 1428 297 1035 673 1158 1262 105 919 527 170 1200 533 1481 557 628 703 124 807 1168 988 1310 1272