Pentalogy of Cantrell: report of a case with consanguineous parents
Keywords:
ectopia cordis, congenital abnormalities, inheritance patterns, hernia, diaphragmatic, tomography, emission-computed, magnetic resonance imaging, pericardium
Abstract
Pentalogy of Cantrell is a syndrome evidencing five anomalies: a midline, upper abdominal wall abnormality; lower sternal defect; anterior diaphragmatic defect; diaphragmatic pericardial defect, and congenital abnormalities of the heart. Its prevalence is one in every 65,000 live births and a survival rate that is low if the fall the five defects are present or the gravity of the cardiac anomalies. It may be diagnosed during the first trimester obstetric ultrasound. For postnatal care, emission-computed tomography and magnetic resonance imaging is recommended for a clear definition of the extent of the defect and to design a course of corrective surgery. Herein, a case of pentology of Cantrell is reported for a child offspring of consanguineous parents.Downloads
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References
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2. Engum SA. Embryology, sternal clefts, ectopia cordis, and Cantrell's pentalogy. Semin Pediatr Surg. 2008;17:154-60.
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5. Carmi R, Parvari R, Weinstein J. Mapping of an X-linked gene for ventral midline defects (the TAS gene). Birth Defects Orig Artic Ser. 1996;30:179-87.
6. Parvari R, Carmi R, Weissenbach J, Pilia G, Mumm S, Weinstein Y. Refined genetic mapping of X-linked thoracoabdominal syndrome. Am J Med Genet. 1996;61:401-2.
7. Pachajoa H. Pentalogía de Cantrell en un recién nacido expuesto en útero a misoprostol. Rev Chil Obstet Ginecol. 2010;75:47-9.
8. van Allen MI, Curry C, Walden CE, Gallagher L, Patten RM. Limb-body wall complex: II. Limb and spine defects. Am J Med Genet. 1987;28:549-65.
9. Carmi R, Boughman JA. Pentalogy of Cantrell and associated midline anomalies: A possible ventral midline developmental field. Am J Med Genet. 1992;42:90-5.
10. Mitsukawa N, Yasunaga H, Tananari Y. Chest wall reconstruction in a patient with Cantrell syndrome. J Plast Reconstr Aesthet Surg. 2007;62:814-8.
11. Vázquez-Jiménez JF, Muhler EG, Daebritz S, Keutel J, Nishigaki K, Huegel W, et al. Cantrell's syndrome: a challenger to the surgeon. Ann Thorac Surg. 1998;65:1178-85.
12. Martin RA, Cunniff C, Erickson L, Jones KL. Pentalogy of Cantrell and ectopis cordis, a familial developmental field comples. Am J Med Genet. 1992;42:839-41.
13. Hornberger LK, Colan SD, Lock JE, Wessel DL, Mayer JE Jr. Outcome of patients with ectopia cordis and significant intracardiac defects. Circulation. 1996;9(Suppl.9):II32-7.
14. Wheeler DS, St Louis JD. Pentalogy of Cantrell associated with hypoplastic left heart syndrome. Pediatr Cardiol. 2007;28:311-3.
15. Pampoli A, Noccioli B, Pampaloni F. Ectopia cardis and Cantrell´s pentalogy: Personal experience and consideration of the surgical treatment. Pediatr Med Chir. 1997;19:59-64.
16. van Hoorn JH, Moonen RM, Huysentruyt CJ, van Heurn LW, Offermans JP, Mulder AL. Pentalogy of Cantrell: Two patients and a review to determine prognostic factors for optimal approach. Eur J Pediatr. 2008;167:29-35.
17. Yao-Yuan H, Chien-Chung L, Chi-Chen C. Prenatal sonographic diagnosis of Cantrell´s pentalogy with cystic hygroma in the first trimester. J Clin Ultrasound. 1998;26:409-12.
18. Bennett TL, Burlbaw J, Drake CK. Diagnosis of ectopic cordis at 12 weeks gestation using transabdominal ultrasonography with color flow Doppler. J Ultrasound Med. 1991;10:695-6.
19. Ghidini A, Sirtori M, Romero E. Prenatal diagnosis of pentalogy of Cantrell. J Ultrasound Med. 1988;7:567-72.
20. Cordoni G, Schlindwein S, Granero L, Gonçalves LF. Pentalogy of Cantrell, early diagnosis a 9 weeks. En: Buyse ML, editor. Birth Defects Encyclopedia. Cambridge: Blackwell Scientific Publications; 1999.
21. Oka T, Shiraishi I, Iwasaki N, Itoi T, Hamaoka K. Usefulness of helical CT angiography and RMI in the diagnosis and treatment of Pentalogy of Cantrell. J Pediatr. 2003;142:83-4.
22. Emanuel PG, García GI, Angtuaco TL. Prenatal detection of anterior abdominal wall defects with US. Radiopgraphics. 1995;15:517-30.
23. Chopra S, Kalpdev A, Suri V, Aggarwal N, Rohilla M. Complete ectopia cordis with anencephaly: A case report. J Clin Ultrasound. 2010;38:212-4.
2. Engum SA. Embryology, sternal clefts, ectopia cordis, and Cantrell's pentalogy. Semin Pediatr Surg. 2008;17:154-60.
3. Toyama WM. Combined congenital defects of the anterior abdominal wall, sternum, diaphragm, pericardium and heart: a case report and review of the syndrome. Pediatrics. 1972;50:778-86.
4. Carmi R, Meizner I, Katz M. Familial congenital diaphragmatic defect and associated midline anomalies: Further evidence for an X-linked midline gene? Am J Med Genet. 1990;36:313-5.
5. Carmi R, Parvari R, Weinstein J. Mapping of an X-linked gene for ventral midline defects (the TAS gene). Birth Defects Orig Artic Ser. 1996;30:179-87.
6. Parvari R, Carmi R, Weissenbach J, Pilia G, Mumm S, Weinstein Y. Refined genetic mapping of X-linked thoracoabdominal syndrome. Am J Med Genet. 1996;61:401-2.
7. Pachajoa H. Pentalogía de Cantrell en un recién nacido expuesto en útero a misoprostol. Rev Chil Obstet Ginecol. 2010;75:47-9.
8. van Allen MI, Curry C, Walden CE, Gallagher L, Patten RM. Limb-body wall complex: II. Limb and spine defects. Am J Med Genet. 1987;28:549-65.
9. Carmi R, Boughman JA. Pentalogy of Cantrell and associated midline anomalies: A possible ventral midline developmental field. Am J Med Genet. 1992;42:90-5.
10. Mitsukawa N, Yasunaga H, Tananari Y. Chest wall reconstruction in a patient with Cantrell syndrome. J Plast Reconstr Aesthet Surg. 2007;62:814-8.
11. Vázquez-Jiménez JF, Muhler EG, Daebritz S, Keutel J, Nishigaki K, Huegel W, et al. Cantrell's syndrome: a challenger to the surgeon. Ann Thorac Surg. 1998;65:1178-85.
12. Martin RA, Cunniff C, Erickson L, Jones KL. Pentalogy of Cantrell and ectopis cordis, a familial developmental field comples. Am J Med Genet. 1992;42:839-41.
13. Hornberger LK, Colan SD, Lock JE, Wessel DL, Mayer JE Jr. Outcome of patients with ectopia cordis and significant intracardiac defects. Circulation. 1996;9(Suppl.9):II32-7.
14. Wheeler DS, St Louis JD. Pentalogy of Cantrell associated with hypoplastic left heart syndrome. Pediatr Cardiol. 2007;28:311-3.
15. Pampoli A, Noccioli B, Pampaloni F. Ectopia cardis and Cantrell´s pentalogy: Personal experience and consideration of the surgical treatment. Pediatr Med Chir. 1997;19:59-64.
16. van Hoorn JH, Moonen RM, Huysentruyt CJ, van Heurn LW, Offermans JP, Mulder AL. Pentalogy of Cantrell: Two patients and a review to determine prognostic factors for optimal approach. Eur J Pediatr. 2008;167:29-35.
17. Yao-Yuan H, Chien-Chung L, Chi-Chen C. Prenatal sonographic diagnosis of Cantrell´s pentalogy with cystic hygroma in the first trimester. J Clin Ultrasound. 1998;26:409-12.
18. Bennett TL, Burlbaw J, Drake CK. Diagnosis of ectopic cordis at 12 weeks gestation using transabdominal ultrasonography with color flow Doppler. J Ultrasound Med. 1991;10:695-6.
19. Ghidini A, Sirtori M, Romero E. Prenatal diagnosis of pentalogy of Cantrell. J Ultrasound Med. 1988;7:567-72.
20. Cordoni G, Schlindwein S, Granero L, Gonçalves LF. Pentalogy of Cantrell, early diagnosis a 9 weeks. En: Buyse ML, editor. Birth Defects Encyclopedia. Cambridge: Blackwell Scientific Publications; 1999.
21. Oka T, Shiraishi I, Iwasaki N, Itoi T, Hamaoka K. Usefulness of helical CT angiography and RMI in the diagnosis and treatment of Pentalogy of Cantrell. J Pediatr. 2003;142:83-4.
22. Emanuel PG, García GI, Angtuaco TL. Prenatal detection of anterior abdominal wall defects with US. Radiopgraphics. 1995;15:517-30.
23. Chopra S, Kalpdev A, Suri V, Aggarwal N, Rohilla M. Complete ectopia cordis with anencephaly: A case report. J Clin Ultrasound. 2010;38:212-4.
How to Cite
1.
Pachajoa H, Barragán A, Torres J, Isaza C. Pentalogy of Cantrell: report of a case with consanguineous parents. biomedica [Internet]. 2010 Dec. 1 [cited 2024 May 18];30(4):473-7. Available from: https://revistabiomedica.org/index.php/biomedica/article/view/284
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Published
2010-12-01
Issue
Section
Case presentation
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