Taiwanese Journal of Obstetrics and Gynecology
Volume 46, Issue 2 , Pages 103-110 , June 2007

Syndromes and Disorders Associated with Omphalocele (II): OEIS Complex and Pentalogy Of Cantrell

  • Chih-Ping Chen

      Affiliations

    • Corresponding Author InformationCorrespondence to: Dr Chih-Ping Chen, Department of Obstetrics and Gynecology, Mackay Memorial Hospital, 92, Section 2, Chung-Shan North Road, Taipei, Taiwan

,Accepted 30 March 2007.

References 

  1. Soper RT , Kilger K . Vesico-intestinal fissure . J Urol . 1964;92:490–501
  2. Carey JC , Greenbaum B , Hall BD . The OEIS complex (omphalocele, exstrophy, imperforate anus, spinal defects) . Birth Defects Orig Artic Ser . 1978;14:253–263
  3. Lee DH , Cottrell JR , Sanders RC , Meyers CM , Wulfsberg EA , Sun CC . OEIS complex (omphalocele-exstrophy-imperforate anus-spinal defects) in monozygotic twins . Am J Med Genet . 1999;84:29–33
  4. Lin HJ , Ndiforchu F , Patell S . Exstrophy of the cloaca in a 47, XXX child: review of genitourinary malformations in triple-X patients . Am J Med Genet . 1993;45:761–763
  5. Lynch SA , Bond PM , Copp AJ , et al.   A gene for autosomal dominant sacral agenesis maps to the holoprosencephaly region at 7q36 . Nat Genet . 1995;11:93–95
  6. Lizcano-Gil LA , Garcia-Cruz D , Sanchez-Corona J . Omphalocele-exstrophy-imperforate-anus-spina bifida (OEIS) complex in a male prenatally exposed to diazepam . Arch Med Res . 1995;26:95–96
  7. Nye JS , Hayes EA , Amendola M , et al.   Myelocystocele-cloacal exstrophy in a pedigree with a mitochondrial 12S rRNA mutation, aminoglycoside-induced deafness, pigmentary disturbances, and spinal anomalies . Teratology . 2000;61:165–171
  8. Keppler-Noreuil KM . OEIS complex (omphalocele-exstrophyimperforate anus-spinal defects): a review of 14 cases . Am J Med Genet . 2001;99:271–279
  9. Martinez-Frias ML , Bermejo E , Rodriguez-Pinilla E , Frias JL . Exstrophy of the cloaca and exstrophy of the bladder: two different expressions of a primary developmental field defect . Am J Med Genet . 2001;99:261–269
  10. Thauvin-Robinet C , Faivre L , Cusin V , et al.   Cloacal exstrophy in an infant with 9q34.1–qter deletion resulting from a de novo unbalanced translocation between chromosome 9q and Yq . Am J Med Genet . 2004;126:303–307
  11. Kosaki R , Fukuhara Y , Kosuga M , et al.   OEIS complex with del(3)(q12.2q13.2) . Am J Med Genet . 2005;135A:224–226
  12. Hertzberg BS , Nyberg DA , Neilsen IR . Ventral wall defects . In:  Nyberg DA ,  McGahan JP ,  Pretorius DH ,  Pilu G editor. Diagnostic Imaging of Fetal Anomalies . Philadelphia: Lippincott Williams and Wilkins; 2003;p. 507–546
  13. McLaughlin JF , Marks WM , Jones G . Prospective management of exstrophy of the cloaca and myelocystocele following prenatal ultrasound recognition of neural tube defects in identical twins . Am J Med Genet . 1984;19:721–727
  14. Meizner I , Bar-Ziv J . Prenatal ultrasonic diagnosis of cloacal exstrophy . Am J Obstet Gynecol . 1985;153:802–803
  15. Kutzner DK , Wilson WG , Hogge WA . OEIS complex (cloacal exstrophy): prenatal diagnosis in the second trimester . Prenat Diagn . 1988;8:247–253
  16. Girz BA , Sherer DM , Atkin J , Venanzi M , Ahlborn L , Cestone L . First-trimester prenatal sonographic findings associated with OEIS (omphalocele-exstrophy-imperforate anus-spinal defects) complex: a case and review of the literature . Am J Perinatol . 1998;15:15–17
  17. Chen CP , Shih SL , Liu FF , Jan SW , Jeng CJ , Lan CC . Perinatal features of omphalocele-exstrophy-imperforate anus-spinal defects (OEIS complex) associated with large meningomyeloceles and severe limb defects . Am J Perinatol . 1997;14:275–279
  18. Schemm S , Gembruch U , Germer U , Janig U , Jonat W , von Kaisenberg CS . Omphalocele-exstrophy-imperforate anus-spinal defects (OEIS) complex associated with increased nuchal translucency . Ultrasound Obstet Gynecol . 2003;22:95–97
  19. Wu JL , Fang KH , Yeh GP , Chou PH , Hsieh CT . Using color Doppler sonography to identify the perivesical umbilical arteries: a useful method in the prenatal diagnosis of omphalocele-exstrophy-imperforate anus-spinal defects complex . J Ultrasound Med . 2004;23:1211–1215
  20. Witters I , Deprest J , van Hole C , Hanssens M , Devlieger H , Fryns JP . Anogenital malformation with ambiguous genitalia as part of the OEIS complex . Ultrasound Obstet Gynecol . 2004;24:797–798
  21. Shanske AL, Pande S, Aref K, Vega-Rich C, Brion L, Reznik S, et al. Omphalocele-exstrophy-imperforate anus-spinal defects (OEIS) in triplet pregnancy after IVF and CVS . Birth Defects Res A Clin Mol Teratol . 2003;67:467–471
  22. Noack F , Sayk F , Gembruch U . Omphalocoele-exstrophyimperforate anus-spinal defects complex in dizygotic twins . Fetal Diagn Ther . 2005;20:346–348
  23. Vasudevan PC , Cohen MC , Whitby EH , Anumba DO , Quarrell OW . The OEIS complex: two case reports that illustrate the spectrum of abnormalities and a review of the literature . Prenat Diagn . 2006;26:267–272
  24. Ben-Neriah Z , Withers S , Thomas M , et al.   OEIS complex: prenatal ultrasound and autopsy findings . Ultrasound Obstet Gynecol . 2007;29:170–177
  25. Chen CP , Chang TY , Liu YP , et al.   Prenatal ultrasound and magnetic resonance imaging findings of OEIS complex . J Clin Ultrasound . 2007; (In press).
  26. Bianchi DW , Crombleholme TM , D'Alton ME . Amniotic band syndrome . In:  Bianchi DW ,  Crombleholme TM ,  D'Alton ME editor. Fetology: Diagnosis and Management of the Fetal Patient . New York: McGraw-Hill; 2000;p. 761–770
  27. Lockwood CJ , Scioscia AL , Hobbins JC . Congenital absence of the umbilical cord resulting from maldevelopment of embryonic body folding . Am J Obstet Gynecol . 1986;155:1049–1051
  28. Goldstein I , Winn HN , Hobbins JC . Prenatal diagnostic criteria for body stalk anomaly . Am J Perinatol . 1989;6:84–85
  29. Miller ME , Higginbottom M , Smith DW . Short umbilical cord: its origin and relevance . Pediatrics . 1981;67:618–621
  30. Cantrell JR , Haller JA , Ravitch MM . A syndrome of congenital defects involving the abdominal wall, sternum, diaphragm, pericardium, and heart . Surg Gynecol Obstet . 1958;107:602–604
  31. van Allen MI , Curry C , Gallagher L . Limb-body wall complex: I. pathogenesis . Am J Med Genet . 1987;28:529–548
  32. 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;28:549–565
  33. Chen CP , Shih JC , Chan YJ . Prenatal diagnosis of limb-body wall complex using two-and three-dimensional ultrasound . Prenat Diagn . 2000;20:1020
  34. Chen CP . Prenatal diagnosis of limb-body wall complex with craniofacial defects, amniotic bands, adhesions and upper limb deficiency . Prenat Diagn . 2001;21:418–419
  35. Chen CP , Shih JC , Tzen CY , Wang W . Three-dimensional ultrasound in the evaluation of complex anomalies associated with fetal ventral midline defects . Ultrasound Obstet Gynecol . 2002;19:102–104
  36. Chen CP , Tzen CY , Chang TY , Yeh LF , Wang W . Prenatal diagnosis of acrania associated with facial defects, amniotic bands and limb-body wall complex . Ultrasound Obstet Gynecol . 2002;20:94–95
  37. Chen CP , Cheng SJ , Lin YH , Wang W . Prenatal imaging of limb-body wall complex by magnetic resonance imaging . Prenat Diagn . 2005;25:521–523
  38. Chen CP , Lin CJ , Chang TY , Hsu CY , Tzen CY , Wang W . Second-trimester diagnosis of limb-body wall complex with literature review of pathogenesis . Genet Couns . 2007;18:105–112
  39. Russo R , D'armiento M , Angrisani P , Vecchione R . Limb body wall complex: a critical review and a nosological proposal . Am J Med Genet . 1993;47:893–900
  40. Torpin R . Amniochorionic mesoblastic fibrous strings and amniotic bands: associated constricting fetal malformations or fetal death . Am J Obstet Gynecol . 1965;91:65–75
  41. Herva R , Karkinen-Jaaskelainen M . Amniotic adhesion malformation syndrome: fetal and placental pathology . Teratology . 1984;29:11–19
  42. Hartwig NG , Vermeij-Keers C , de Vries HE , Kagie M , Kragt H . Limb-body wall malformation complex: an embryologic etiology? . Hum Pathol . 1989;20:1071–1077
  43. Robin NH , Abbadi N , McCandless SE , Nadeau JH . Disorganization in mice and humans and its relation to sporadic birth defects . Am J Med Genet . 1997;73:425–436
  44. Sahinoglu Z, Mulayim B, Ozden S, Etker S, Celayir A, Ozkan F, et al. The prenatal diagnosis of cloacal dysgenesis sequence in six cases: can the termination of pregnancy always be the first choice? . Prenat Diagn . 2004;24:10–16
  45. Carmi R , Barbash A , Mares AJ . The thoracoabdominal syndrome (TAS): a new X-linked dominant disorder . Am J Med Genet . 1990;36:109–114
  46. Parvari R , Weinstein Y , Ehrlich S , Steinitz M , Carmi R . Linkage localization of the thoraco-abdominal syndrome (TAS) gene to Xq25–26 . Am J Med Genet . 1994;49:431–434
  47. 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;61:401–402
  48. Liang RI , Huang SE , Chang FM . Prenatal diagnosis of ectopia cordis at 10 weeks of gestation using two-dimensional and three-dimensional ultrasonography . Ultrasound Obstet Gynecol . 1997;10:137–139
  49. Pollio F , Sica C , Pacilio N , et al.   Pentalogy of Cantrell: first trimester prenatal diagnosis and association with multicistic dysplastic kidney . Minerva Ginecol . 2003;55:363–366 [In Italian]
  50. Sarkar P , Bastin J , Katoch D , Pal A . Pentalogy of Cantrell: diagnosis in the first trimester . J Obstet Gynaecol . 2005;25:812–813
  51. Araujo Junior E , Zanforlin Filho SM , Guimaraes Filho HA , Pires CR , Nardozza LM , Moron AF . Diagnosis of Pentalogy of Cantrell by three-dimensional ultrasound in third trimester of pregnancy. A case report . Fetal Diagn Ther . 2006;21:544–547
  52. Markov D , Chernev T , Dimitrova V , Mazneikova V . Pentalogy of Cantrell associated with increased nuchal translucency at 12+1 w.g. . Akush Ginekol (Sofiia) . 2004;43:34–36 [In Bulgarian]
  53. Staboulidou I , Wustemann M , Schmidt P , Gunter HH , Scharf A . Increased fetal nuchal translucency as a predictor of Cantrell's pentology—case report . Z Geburtshilfe Neonatol . 2005;209:231–234 [In German]
  54. Hsieh YY , Lee CC , Chang CC , Tsai HD , Hsu TY , Tsai CH . Prenatal sonographic diagnosis of Cantrell's pentalogy with cystic hygroma in the first trimester . J Clin Ultrasound . 1998;26:409–412
  55. Siles C , Boyd PA , Manning N , Tsang T , Chamberlain P . Omphalocele and pericardial effusion: possible sonographic markers for the pentalogy of Cantrell or its variants . Obstet Gynecol . 1996;87:840–842
  56. Desselle C , Herve P , Toutain A , Lardy H , Sembely C , Perrotin F . Pentalogy of Cantrell: sonographic assessment . J Clin Ultrasound . 2007;35:216–220
  57. Abu-Yousef MM , Wray AB , Williamson RA , Bonsib SM . Antenatal ultrasound diagnosis of variant of pentalogy of Cantrell . J Ultrasound Med . 1987;6:535–538
  58. Denath FM , Romano W , Solcz M , Donnelly D . Ultrasono-graphic findings of exencephaly in pentalogy of Cantrell: case report and review of the literature . J Clin Ultrasound . 1994;22:351–354
  59. Kaplan LC , Matsuoka R , Gilbert EF , Opitz JM , Kurnit DM . Ectopia cordis and cleft sternum: evidence for mechanical teratogenesis following rupture of the chorion or yolk sac . Am J Med Genet . 1985;21:187–202
  60. Khoury MJ , Cordero JF , Rasmussen S . Ectopia cordis, mid-line defects and chromosome abnormalities: an epidemio-logic perspective . Am J Med Genet . 1988;30:811–817
  61. 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
  62. Soper SP , Roe LR , Hoyme HE , Clemmons JJ . Trisomy 18 with ectopia cordis, omphalocele, and ventricular septal defect: case report . Pediatr Pathol . 1986;5:481–483
  63. Bick D , Markowitz RI , Horwich A . Trisomy 18 associated with ectopia cordis and occipital meningocele . Am J Med Genet . 1988;30:805–810
  64. Egan JF , Petrikovsky BM , Vintzileos AM , Rodis JF , Campbell WM . Combined pentalogy of Cantrell and sirenomelia: a case report with speculation about a common etiology . Am J Perinatol . 1993;10:327–329
  65. 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
  66. Spitz L , Bloom R , Milner S , Levin SE . Combined anterior abdominal wall, sternal, diaphragmatic, pericardial, and intracardiac defects: a report of five cases and their management . J Pediatr Surg . 1975;10:491–496
  67. Ghidini A , Sirtori M , Romero R , Hobbins JC . Prenatal diagnosis of pentalogy of Cantrell . J Ultrasound Med . 1988;7:567–572
  68. Reyes-Mugica M . Pentalogy of Cantrell, ectopia cordis, and frontonasal dysplasia . Am J Med Genet . 1992;44:540
  69. Hori A , Roessmann U , Eubel R , Ulbrich R , Dietrich-Schott B . Exencephaly in Cantrell-Haller-Ravitsch Syndrome . Acta Neuropathol . 1984;65:158–162
  70. Peer D , Moroder W , Delucca A . Prenatal diagnosis of the pentalogy of Cantrell combined with exencephaly and amniotic band syndrome . Ultraschall Med . 1993;14:94–95 [In German]
  71. Bognoni V , Quartuccio A , Quartuccio A . First-trimester sonographic diagnosis of Cantrell's pentalogy with exencephaly . J Clin Ultrasound . 1999;27:276–278
  72. Polat I, Gul A, Aslan H, Cebeci A, Ozseker B, Caglar B, et al. Prenatal diagnosis of pentalogy of Cantrell in three cases, two with craniorachischisis . J Clin Ultrasound . 2005;33:308–311
  73. Faiyazul Haque M, Uhlhaas S, Knapp M, Schuler H, Friedl W, Ahmad M, et al. X-chromosomal split-hand/split-foot anomaly maps to Xq26 . Am J Hum Genet . 1992;51(Suppl):A189; [Abstract]
  74. Faiyaz-Ul-Haque M , Zaidi SH , King LM , et al.   Fine mapping of the X-linked split-hand/split-foot malformation (SHFM2) locus to a 5.1-Mb region on Xq26.3 and analysis of candidate genes . Clin Genet . 2005;67:93–97
  75. Pivnick EK , Kaufman RA , Velagaleti GV , Gunther WM , Abramovici D . Infant with midline thoracoabdominal schisis and limb defects . Teratology . 1998;58:205–208
  76. Uygur D , Kis S , Sener E , Gunce S , Semerci N . An infant with pentalogy of Cantrell and limb defects diagnosed prenatally . Clin Dysmorphol . 2004;13:57–58
  77. Chen CP , Hsu CY , Tzen CY , Chern SR , Wang W . Prenatal diagnosis of pentalogy of Cantrell associated with hypoplasia of the right upper limb and ectrodactyly . Prenat Diagn . 2007;27:86–87
  78. Abdallah HI , Marks LA , Balsara RK , Davis DA , Russo PA . Staged repair of pentalogy of Cantrell with tetralogy of Fallot . Ann Thorac Surg . 1993;56:979–980
  79. Chen Y , Lai HS , Duh YC , Wang JK , Chiu IS . Pentalogy of Cantrell corrected by one-stage repair . J Formos Med Assoc . 1996;95:555–557

PII: S1028-4559(07)60003-5

doi: 10.1016/S1028-4559(07)60003-5

Taiwanese Journal of Obstetrics and Gynecology
Volume 46, Issue 2 , Pages 103-110 , June 2007

Article Tools