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Pentalogy of Cantrell in twins: a case report/ Kantrelova pentalogija ublizanackoj trudnoci: prikaz slucaja.


Cantrell et al. reported five cases of the syndrome named the Pentology of Cantrell (PC) in 1958 [1]. PC is a very rare congenital multiple malformation with the poor outcome. PC included the following pentad: abdominal wall defect, a defect of the lower sternum, anterior diaphragm defect, ectopia cordis, as well as a variety of intracardiac anomalies [1]. The exact cause of syndrome is not known. According to the description, it is associated with chromosomal disorders in some cases. Variants of PC without some of the five main anomalies listed above are more frequently described in literature [2, 3]. The full PC with all anomalies presented is extremely rare, and even less frequent in twins [2, 3]. It could be associated with some cranial and facial anomalies, clubfeet, malrotation of the colon, hydrocephalus and anencephaly [2, 3]. We report a case of the complete PC in the twin pregnancy. The malformation was diagnosed prenatally in the second trimester of the pregnancy in one of the twins, and the other one had agenesis of the nasal apex. PC in this case was combined with the kidney malformation.

Case Report

A pregnant woman underwent a routine ultrasound examination in the fifteenth week of the twin pregnancy, which showed multiple anomalies in one of the twins, as well as the absence of the nose apex in the other one. The induced abortion was approved by the Ethics Committee.

The Autopsy of the Fetus Number One

The external examination of the fetus number one demonstrated the ectopic heart and omphalocele (Figure 1). The internal examination showed the existence of sternum cleft, ectopic heart and part of the left lung outside the thoracic cavity, the presence of diaphragmatic hernia with protrusion of the spleen, a part of the stomach, small intestine and colon into the chest cavity. Further examination of the chest cavity showed the pericardium, and reduced size of the heart for that gestational age. The heart had only one large vessel. Both lungs were reduced in size. The abdominal cavity had inadequate organ position due to the presence of omphalocele at the base of the umbilical cord, with the content of the liver, part of the small intestine and colon. The liver, spleen and stomach were reduced in size. The horseshoe kidney was also found as an associated malformation.

The Autopsy of the Fetus Number Two

The external examination of the fetus number two showed the absence of the nose apex without any other malformations observed. The internal examination of the same twin proved the absence of any other anomaly.


The etiology of PC is not precisely defined. It is believed that errors in the early embryonic development of the mesoderm occurring between the 14th and 18th days of gestation result in PC. Pentalogy of Cantrell can be caused by vascular dysplasia, as well as mechanical teratogens, genetic mutations or a viral infection in the first trimester of pregnancy [4]. Some PC cases have been reported in the consanguineous parents [5].

In 1972, Toyama classified 61 previously described cases of PC into three classes: Class 1- the presence of all five described defects; Class 2 - the presence of four defects with obligatory presence of intracardiac anomalies and defects of the anterior abdominal wall; Class 3-incomplete expression with a different combination of anomalies and the always present abnormality of the sternum [6]. Our case is the originally described syndrome of Class 1. Since the syndrome was diagnosed in a twin pregnancy, it is very rare, having been described only in few cases in the literature [7, 8].

Anomalies which are according to the literature associated with Pentalogy of Cantrell are: agenesis 1 of the corpus callosum, hydrocephalus, anencephaly, lip and palate cleft, fusion of the adrenal gland with liver, colon malrotation, clinodactily [9, 10], the absence of tibia and radius, polysplenia, underdevelopment of the gallbladder [11]. An association with renal anomalies is described only in a few cases: the right kidney agenesis [12], dysplasia of the left kidney and the right kidney pyeloectasis [13], left kidney agenesis [14]. A horseshoe kidney, which is a part of the reported case, is the anomaly which has not been described so far as a part of PC.

Pentology of Cantrell can be diagnosed in the tenth gestational week at the earliest. The diagnosis can be made by 2D ultrasonography, as well as by 3D ultrasound, which is an additional method of assistance [15]. According to Toyama classes, there is a possibility of a little more difficulties in making the diagnosis if anomalies are not so extensive and easily recognized. In such cases, it is helpful to use magnetic resonance [15, 16]. The prognosis of PC depends on the presence of the anomalies, and the most difficult cases are lethal before the end of pregnancy, some newborns survive a few hours or days, but lethal outcome is certain without surgical intervention [16].


Recognition and diagnosis of the syndrome is of the exceptional importance. Proper and timely diagnosis could direct outcome of the pregnancy. If the anomalies are of such an extent that the life of a newborn is endangered, then the doctors should induce delivery and get ready to perform appropriate surgical interventions.


[1.] Cantrell JR, Haller JA, Ravitch MM. A syndrome of congenital defects involving the abdominal wall, sternum, diaphragm, pericardium, and heart. Surg Gynecol Obstet. 1958; 107:602-14.

[2.] Prasun P, Behera BK, Pradhan M. Limb body wall complex. Indian J Pathol Microbiol. 2008;51:255-6.

[3.] Alagappan P, Chellathurai A, Swaminathan TS, et al. Pentalogy Of Cantrell. Indian J Radiol Imaging. 2005;15:81-4.

[4.] El-Nabulsi B, Brannan G, Carachi R. A variant of pentalogy of cantrell: a case report. South Med J. 2009;54Suppl 2:58-63.

[5.] Pachajoa H, Barragan A, Potes A, et al. Pentalogy of Cantrell: report of a case with consanguineous parents. Inicio. 2010;30Suppl 4:4-10.

[6.] Sowande OA, Anyanwu LJC, Talabi AO, et al. Pentalogy of Cantrell: a report of three cases. J Surg Tech Case Rep. 2010;2Suppl 1:20-4.

[7.] Rashid RM, Muraskas JK. Multiple vascular accidents: pentalogy of Cantrell in one twin with left sided colonic atresia in the second twin. J Perinatal Med. 2007;35:162-3.

[8.] Spencer R, Robichaux WH, Superneau DW, et al. Unusual cardiac malformations in conjoined twins: thoracopagus twins with conjoined pentalogy of Cantrell and an omphalopagus twin with atretic ventricles. Pediatr Cardiol. 2002;23:631-8.

[9.] Rodgers EB, Monteagudo A, Santos R, et al. Diagnosis of pentalogy of Cantrell using 2- and 3-dimensional sonography. J Ultrasound Med. 2010;29:1825-8.

[10.] Aliyu I, Aminu MM. Pentalogy of Cantrell; complete expression in a nine-month-old-boy. Niger Med J. 2013;54Suppl 3:203-6.

[11.] Chandran S, Ari D. Pentalogy of Cantrell: an extremely rare congenital anomaly. J Clin Neonatol. 2013;2Suppl 2:95-7.

[12.] Fernandez MS, Lopez A, Vila JJ, et al. Cantrell's pentalogy: report of four cases and their management. Pediatr Surg Int. 1997;12:428-31.

[13.] Pollio F, Sica C, Pacilio N, et al. Pentalogia di Cantrell: diagnosi prenatale nel primo trimestre ed associazione con la displasia renale multicistica. Minerva Ginecol. 2003;55:363-6.

[14.] Aslan A, Karaguzel G, Unal I, et al. Two rare cases of the pentalogy of Cantrell or its variants. Acta Med Austriaca. 2004;31:85-7.

[15.] Jafarian AH, Omidi AA, Fazel A, et al. Pentalogy of Cantrell: a case report. J Res Med Sci. 2011;16Suppl 1:105-9.

[16.] Gao Z, Duan Q, Zhang ZW, et al. Pentalogy of Cantrell associated with thoracoabdominal ectopia cordis. Circulation. 2009;119:483-5.

Rad je primljen 23. VI 2015.

Recenziran 16. VII 2015.

Prihvacen za stampu 20. VII 2015.

DOI: 10.2298/MPNS1512410I


University of Novi Sad, Faculty of Medicine

Department for Histology and Embryology (1)

Clinical Center of Vojvodina, Novi Sad

Center for Histology and Pathology (2)

University of Novi Sad, Faculty of Medicine, Department for Pathology (3)

Corresponding Author: Dr Jelena Ilic Sabo, Medicinski fakultet, Katedra za histologiju i embriologiju, 21000 Novi Sad, Hajduk Veljkova 1-3, E-mail:
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Article Details
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Title Annotation:Case report/Prikaz slucaja
Author:Sabo, Jelena R. Ilic; Boskovic, Tamara J.; Zivojinov, Mirjana M.; Levakov, Aleksandra M. Fejsa
Publication:Medicinski Pregled
Article Type:Case study
Date:Nov 1, 2015
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