2018, Number 1
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Rev Med MD 2018; 9.10 (1)
Cantrell's pentalogy
Trejo-González AA, De los Santos-Sánchez DJ, Trejo-González PC
Language: Spanish
References: 28
Page: 52-55
PDF size: 542.15 Kb.
ABSTRACT
Cantrell's pentalogy is a rare congenital syndrome, reported by Cantrell in 1958 when describing 5 cases with this
abnormality. This malformation includes lower sternum defect, anterior diaphragmatic, diaphragmatic pericardial,
abdominal wall (usually omphalocele) and cardiac alterations. We present a case with a rare combination of ectopia
cordis and craniorachischisis in a product of a 18-year-old primigravida woman who is referred for fetal malformations
at 14th weeks of gestation. Cantrell's pentalogy in extreme conditions is not compatible with life especially if it is
associated with other complex anomalies such as craniorachischisis. Through this case we want to emphasize the
importance of prenatal care and prenatal ultrasound screening.
REFERENCES
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: 602-614.
2.Van Hoorn JH, Moonen RM, Huysentruyt CJ, et al. Pentalogy of cantrell: Two patients and a review to determine prognostic factors for optimal approach. Eur J Pediatr 2008; 167: 29-35.
3.Parvari R, Weinstein Y, Ehrlich S, et al. Linkage localization of the thoraco-abdominal syndrome (TAS) gene to Xq25-26. Am J Med Genet 1994; 49: 431-434.
4.The International Federation of Gynecology and Obstetrics, disponible en: https://www.figo.org
5.Aslan A, Karagüzel G, Unal I, et al. Two rare cases of the pentalogy of cantrell or its variants. Acta Med Austriaca 2004; 31: 85-87.
6.Abott FC. Congenital abnormality of sternum and diaphragm; protusion of the heart in the epigastric region. Trans Pathol Soc London 69:57-59, 1898.
7.Van Praagh R, Weinberg PM, Van Praagh S. Malposition of the heart. En: Moss A, Emmanouilides GC (eds). Heart Disease in Infants, children and adolescents, Williams and Wilkins, Baltimore, p. 394, 1977.
8.F.I.M.D. Goncalo, et al. “Ectopia cordis : A case clinic, ”Revista Brasileira de Sa´ude Materno Infantil, vol.
14, no.3, pp.287–290, 2014.
9.S. Jimmy, B. Keshav, et al. “Thoracic ectopia cordis,” BMJ Case Report, 2012.
10.M. I. Van Allen and S. Myhre, “Ectopia cordis thoracalis with craniofacial defects resulting from early amnion rupture”, Teratology, vol.32, no.1, pp.19–24, 1985.
11.Atlas RENAC. Guía para la detección y descripción de las anomalías congénitas, p.30; 2015.
12.Monteagudo A, Timor- Tritsch I E : Fe t a l neurosonography of congenital brain anomalies. In: Timor-Tritsch IE, Monteagudo A, Cohen HI, editors. Ultrasonography of the prenatal and neonatal brain. New York: McGraw-Hill 2001. 164.
13.Restrepo MS, Cerqua A, Turek JW. Pentalogy of cantrell with ectopia cordis totalis, total anomalous pulmonary venous connection and tetralogy of Fallot: A case report and review of the literature. Congenit Heart Dis 2014; 9: 129-134
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: 602-614.
2.Van Hoorn JH, Moonen RM, Huysentruyt CJ, et al. Pentalogy of cantrell: Two patients and a review to determine prognostic factors for optimal approach. Eur J Pediatr 2008; 167: 29-35.
3.Parvari R, Weinstein Y, Ehrlich S, et al. Linkage localization of the thoraco-abdominal syndrome (TAS) gene to Xq25-26. Am J Med Genet 1994; 49: 431-434.
4.The International Federation of Gynecology and Obstetrics, disponible en: https://www.figo.org
5.Aslan A, Karagüzel G, Unal I, et al. Two rare cases of the pentalogy of cantrell or its variants. Acta Med Austriaca 2004; 31: 85-87.
6.Abott FC. Congenital abnormality of sternum and diaphragm; protusion of the heart in the epigastric region. Trans Pathol Soc London 69:57-59, 1898.
7.Van Praagh R, Weinberg PM, Van Praagh S. Malposition of the heart. En: Moss A, Emmanouilides GC (eds). Heart Disease in Infants, children and adolescents, Williams and Wilkins, Baltimore, p. 394, 1977.
8.F.I.M.D. Goncalo, et al. “Ectopia cordis : A case clinic, ”Revista Brasileira de Sa´ude Materno Infantil, vol.
14, no.3, pp.287–290, 2014.
9.S. Jimmy, B. Keshav, et al. “Thoracic ectopia cordis,” BMJ Case Report, 2012.
10.M. I. Van Allen and S. Myhre, “Ectopia cordis thoracalis with craniofacial defects resulting from early amnion rupture”, Teratology, vol.32, no.1, pp.19–24, 1985.
11.Atlas RENAC. Guía para la detección y descripción de las anomalías congénitas, p.30; 2015.
12.Monteagudo A, Timor- Tritsch I E : Fe t a l neurosonography of congenital brain anomalies. In: Timor-Tritsch IE, Monteagudo A, Cohen HI, editors. Ultrasonography of the prenatal and neonatal brain. New York: McGraw-Hill 2001. 164.
13.Restrepo MS, Cerqua A, Turek JW. Pentalogy of cantrell with ectopia cordis totalis, total anomalous pulmonary venous connection and tetralogy of Fallot: A case report and review of the literature. Congenit Heart Dis 2014; 9: 129-134
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