Thoracoabdominal wall defect with complete ectopia cordis and gastroschisis: A case report and review of the literature

Pediatric and Developmental Pathology

Volumn 16, Issue 5, 2013, Pages 348-352

  Pepper, Michael A ^a   Fishbein, Gregory A ^a   Teitell, Michael A ^a  

^a UNIVERSITY OF CALIFORNIA   (United States)

Author keywords

Cantrell's syndrome; Ectopia cordis; Gastroschisis; Ventral body wall defect

Indexed keywords

ABDOMINAL WALL DEFECT; ARTICLE; AUTOPSY; CASE REPORT; DUCTUS ARTERIOSUS; ECTOPIA CORDIS; FETUS; GASTROSCHISIS; GESTATIONAL AGE; HEART FORAMEN OVALE; HEART VENTRICLE SEPTUM DEFECT; HUMAN; INFLAMMATION; MALE; PERICARDIUM; PRIORITY JOURNAL; THORAX WALL DEFECT;

ABDOMINAL WALL; ECTOPIA CORDIS; FETUS; GASTROSCHISIS; HUMANS; MALE;

EID: 84888140632     PISSN: 10935266     EISSN: 16155742     Source Type: Journal    
DOI: 10.2350/13-03-1318-CR.1     Document Type: Article

References (29)

1. Canfield MA, Honein MA, Yuskiv N, et al. National estimates and race/ethnic-specific variation of selected birth defects in the United States, 1999-2001. Birth Defects Res A Clin Mol Teratol 2006;76:747-756.
2. Mastroiacovo P, Lisi A, Castilla EE, et al. Gastroschisis and associated defects: an international study. Am J Med Genet A 2007;671:660-671. (Pubitemid 46606674)
3. Sadler TW. The embryologic origin of ventral body wall defects. Semin Pediatr Surg 2010;19:209-214.
4. Christison-Lagay ER, Kelleher CM, Langer JC. Neonatal abdominal wall defects. Semin Fetal Neonatal Med 2011;16:164-172.
5. Khoury MJ, Cordero JF, Rasmussen S. Ectopia cordis, midline defects and chromosome abnormalities: an epidemiologic perspective. Am J Med Genet 1988;30:811-817.
6. Todd R. Abnormal condition of heart. In: Todd RB, ed. The Cyclopaedia of Anatomy and Physiology. London: Sherwood, Gilbert, and Piper. 1839;630-631.
7. Breschet G. Mémoire sur l'ectopie de l'appareil de la circulation, et particulairement sur selle du coeur. Répertoire gén D'Anat Physiol Pathologiques Clinique Chirurg 1826;2:1-45.
8. Weese C. Des cordis ectopia. Inaugural dissertation. Berlin: University of Berlin, 1818.
9. Shamberger RC, Welch KJ. Pediatric sternal defects. Pediatr Surg Int 1990;5:156-164.
10. Alphonso N, Venugopal P, Deshpande R, Anderson D. Complete thoracic ectopia cordis. Eur J Cardiothorac Surg 2003;23:426-428. (Pubitemid 36298558)
11. Hornberger LK, Colan SD, Lock JE, Wessel DL, Mayer JE. Outcome of patients with ectopia cordis and significant intracardiac defects. Circulation 1996;94(9 Suppl):II32-7. (Pubitemid 26363362)
12. Brewer S, Williams T. Finally, a sense of closure? Animal models of human ventral body wall defects. Bioessays 2004;26:1307-1321. (Pubitemid 39664624)
13. 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.
14. 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;50:778-792.
15. Carmi R, Boughman JA. Pentalogy of Cantrell and associated midline anomalies: a possible ventral midline developmental field. Am J Med Genet 1992;42:90-95.
16. Medina-Escobedo G, Reyes-Mugica M, Arteaga-Martinez M. Ectopia cordis: autopsy findings in four cases. Fetal Pediatr Pathol 1991;11:85-95.
17. Reyes-Mugica M. Pentalogy of Cantrell, ectopia cordis, and frontonasal dysplasia. Am J Med Genet 1992;44:540.
18. Van Allen MI, Curry C, Gallagher L. Limb body wall complex: I. Pathogenesis. Am J Med Genet 1987;28:529-548. (Pubitemid 17164739)
19. Hunter AGW, Seaver LH, Stevenson RE. Limb-body wall defect. Is there a defensible hypothesis and can it explain all the associated anomalies? Am J Med Genet A 2011;155A:2045-2059.
20. Martínez-Frías ML. Clinical and epidemiological characteristics ofinfants with body wall complex with and without limb deficiency. Am J Med Genet 1997;73:170-175. (Pubitemid 27514726)
21. Bair JH, Russ PD, Pretorius DH, Manchester D, Manco-Johnson ML. Fetal omphalocele and gastroschisis: a review of 24 cases. AJR Am J Roentgenol 1986;147:1047-1051. (Pubitemid 17182620)
22. Meyer WJ, Gauthier DW, Torres W, Donald W, Warsof S. Heart, cordis ectopia. 1991. Available at http://www.sonoworld.com/Fetus/page.aspx?id545. Accessed April 25, 2012.
23. Daum R, Zachariou Z. Total and superior sternal clefts in newborns: a simple technique for surgical correction. J Pediatr Surg 1999;34:408-411. (Pubitemid 29146497)
24. Baral K, Bandyopadhyay M, Das P, Dutta A, Mukherjee S. Ectopia cordis with omphalocele - a case report. J Indian Med Assoc 2010;108:697-698.
25. Duhamel B. Embryology of exomphalos and allied malformations. Arch Dis Child 1963;38:142-147.
26. Hoyme HE, Higginbottom MC, Jones KL. The vascular pathogenesis of gastroschisis: intrauterine interruption of the omphalomesenteric artery. J Pediatr 1981;98:228-231. (Pubitemid 11191072)
27. Sadler TW, Rasmussen SA. Examining the evidence for vascular pathogenesis of selected birth defects. Am J Med Genet 2010;152A:2426-2436.
28. Gill SK, Broussard C, Devine O, Green RF, Rasmussen SA, Reefhuis J. Association between maternal age and birth defects of unknown etiology - United States, 1997-2007. Birth Defects Res A Clin Mol Teratol 2012;94:1010-1018.
29. Axt-Fliedner R, Schwarze A, Smrcek J, Germer U, Krapp M, Gembruch U. Isolated ventricular septal defects detected by color Doppler imaging: evolution during fetal and 1st year of postnatal life. Ultrasound Obstet Gynecol 2006;27:266-273. (Pubitemid 43735498)