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Omphalocele
A. Carlson Merrow, Jr., MD, FAAP
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KEY FACTS

  • Terminology

    • Imaging

      • Top Differential Diagnoses

        • Pathology

          • Clinical Issues

            TERMINOLOGY

            • Synonyms

              • Exomphalos
            • Definitions

              • Midline abdominal wall defect (AWD) with visceral extrusion into umbilical cord base

            IMAGING

            • General Features

              • Radiographic Findings

                • Fluoroscopic Findings

                  • Ultrasonographic Findings

                    • MR Findings

                      • Imaging Recommendations

                        DIFFERENTIAL DIAGNOSIS

                          PATHOLOGY

                          • General Features

                            • Gross Pathologic & Surgical Features

                              CLINICAL ISSUES

                              • Presentation

                                • Demographics

                                  • Natural History & Prognosis

                                    • Treatment

                                      DIAGNOSTIC CHECKLIST

                                      • Consider

                                        Selected References

                                        1. Abdelhafeez AH et al: The risk of volvulus in abdominal wall defects. J Pediatr Surg. 50(4):570-2, 2015
                                        2. Gamba P et al: Abdominal wall defects: prenatal diagnosis, newborn management, and long-term outcomes. Semin Pediatr Surg. 23(5):283-90, 2014
                                        3. Lakshminarayanan B et al: Abdominal wall defects. Early Hum Dev. 90(12):917-20, 2014
                                        4. Kelly KB et al: Pediatric abdominal wall defects. Surg Clin North Am. 93(5):1255-67, 2013
                                        5. Frolov P et al: Clinical risk factors for gastroschisis and omphalocele in humans: a review of the literature. Pediatr Surg Int. 26(12):1135-48, 2010
                                        6. Mac Bird T et al: Demographic and environmental risk factors for gastroschisis and omphalocele in the National Birth Defects Prevention Study. J Pediatr Surg. 44(8):1546-51, 2009
                                        7. Vachharajani AJ et al: Outcomes of exomphalos: an institutional experience. Pediatr Surg Int. 25(2):139-44, 2009
                                        8. Islam S: Clinical care outcomes in abdominal wall defects. Curr Opin Pediatr. 20(3):305-10, 2008
                                        9. Kamata S et al: Prenatal detection of pulmonary hypoplasia in giant omphalocele. Pediatr Surg Int. 24(1):107-11, 2008
                                        10. Kumar HR et al: Impact of omphalocele size on associated conditions. J Pediatr Surg. 43(12):2216-9, 2008
                                        11. Mann S et al: Prenatal and postnatal management of omphalocele. Prenat Diagn. 28(7):626-32, 2008
                                        12. Blazer S et al: Fetal omphalocele detected early in pregnancy: associated anomalies and outcomes. Radiology. 232(1):191-5, 2004
                                        13. Hwang PJ et al: Omphalocele and gastroschisis: an 18-year review study. Genet Med. 6(4):232-6, 2004
                                        14. Wilson RD et al: Congenital abdominal wall defects: an update. Fetal Diagn Ther. 19(5):385-98, 2004
                                        15. Halbertsma FJ et al: Cardiac diverticulum and omphalocele: Cantrell's pentalogy or syndrome. Cardiol Young. 12(1):71-4, 2002
                                        16. Macayran JF et al: PAGOD syndrome: eighth case and comparison to animal models of congenital vitamin A deficiency. Am J Med Genet. 108(3):229-34, 2002
                                        17. Ericson A et al: Congenital malformations in infants born after IVF: a population-based study. Hum Reprod. 16(3):504-9, 2001
                                        18. Headley BM et al: Left-lung-collapse bronchial deformation in giant omphalocele. J Pediatr Surg. 36(6):846-50, 2001
                                        19. Puthenpurayil K et al: Pelvic ectopia of the liver in an adult associated with omphalocele repair as a neonate. AJR Am J Roentgenol. 177(5):1113-5, 2001
                                        20. Koivusalo A et al: Cryptorchidism in boys with congenital abdominal wall defects. Pediatr Surg Int. 13(2-3):143-5, 1998
                                        Related Anatomy
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                                        Related Differential Diagnoses
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                                        References
                                        Tables

                                        Tables

                                        KEY FACTS

                                        • Terminology

                                          • Imaging

                                            • Top Differential Diagnoses

                                              • Pathology

                                                • Clinical Issues

                                                  TERMINOLOGY

                                                  • Synonyms

                                                    • Exomphalos
                                                  • Definitions

                                                    • Midline abdominal wall defect (AWD) with visceral extrusion into umbilical cord base

                                                  IMAGING

                                                  • General Features

                                                    • Radiographic Findings

                                                      • Fluoroscopic Findings

                                                        • Ultrasonographic Findings

                                                          • MR Findings

                                                            • Imaging Recommendations

                                                              DIFFERENTIAL DIAGNOSIS

                                                                PATHOLOGY

                                                                • General Features

                                                                  • Gross Pathologic & Surgical Features

                                                                    CLINICAL ISSUES

                                                                    • Presentation

                                                                      • Demographics

                                                                        • Natural History & Prognosis

                                                                          • Treatment

                                                                            DIAGNOSTIC CHECKLIST

                                                                            • Consider

                                                                              Selected References

                                                                              1. Abdelhafeez AH et al: The risk of volvulus in abdominal wall defects. J Pediatr Surg. 50(4):570-2, 2015
                                                                              2. Gamba P et al: Abdominal wall defects: prenatal diagnosis, newborn management, and long-term outcomes. Semin Pediatr Surg. 23(5):283-90, 2014
                                                                              3. Lakshminarayanan B et al: Abdominal wall defects. Early Hum Dev. 90(12):917-20, 2014
                                                                              4. Kelly KB et al: Pediatric abdominal wall defects. Surg Clin North Am. 93(5):1255-67, 2013
                                                                              5. Frolov P et al: Clinical risk factors for gastroschisis and omphalocele in humans: a review of the literature. Pediatr Surg Int. 26(12):1135-48, 2010
                                                                              6. Mac Bird T et al: Demographic and environmental risk factors for gastroschisis and omphalocele in the National Birth Defects Prevention Study. J Pediatr Surg. 44(8):1546-51, 2009
                                                                              7. Vachharajani AJ et al: Outcomes of exomphalos: an institutional experience. Pediatr Surg Int. 25(2):139-44, 2009
                                                                              8. Islam S: Clinical care outcomes in abdominal wall defects. Curr Opin Pediatr. 20(3):305-10, 2008
                                                                              9. Kamata S et al: Prenatal detection of pulmonary hypoplasia in giant omphalocele. Pediatr Surg Int. 24(1):107-11, 2008
                                                                              10. Kumar HR et al: Impact of omphalocele size on associated conditions. J Pediatr Surg. 43(12):2216-9, 2008
                                                                              11. Mann S et al: Prenatal and postnatal management of omphalocele. Prenat Diagn. 28(7):626-32, 2008
                                                                              12. Blazer S et al: Fetal omphalocele detected early in pregnancy: associated anomalies and outcomes. Radiology. 232(1):191-5, 2004
                                                                              13. Hwang PJ et al: Omphalocele and gastroschisis: an 18-year review study. Genet Med. 6(4):232-6, 2004
                                                                              14. Wilson RD et al: Congenital abdominal wall defects: an update. Fetal Diagn Ther. 19(5):385-98, 2004
                                                                              15. Halbertsma FJ et al: Cardiac diverticulum and omphalocele: Cantrell's pentalogy or syndrome. Cardiol Young. 12(1):71-4, 2002
                                                                              16. Macayran JF et al: PAGOD syndrome: eighth case and comparison to animal models of congenital vitamin A deficiency. Am J Med Genet. 108(3):229-34, 2002
                                                                              17. Ericson A et al: Congenital malformations in infants born after IVF: a population-based study. Hum Reprod. 16(3):504-9, 2001
                                                                              18. Headley BM et al: Left-lung-collapse bronchial deformation in giant omphalocele. J Pediatr Surg. 36(6):846-50, 2001
                                                                              19. Puthenpurayil K et al: Pelvic ectopia of the liver in an adult associated with omphalocele repair as a neonate. AJR Am J Roentgenol. 177(5):1113-5, 2001
                                                                              20. Koivusalo A et al: Cryptorchidism in boys with congenital abdominal wall defects. Pediatr Surg Int. 13(2-3):143-5, 1998