Please wait a minute...
Clinical and Experimental Obstetrics & Gynecology  2020, Vol. 47 Issue (2): 154-158    DOI: 10.31083/j.ceog.2020.02.5141
Review Previous articles | Next articles
OEIS complex (omphalocele-exstrophy-imperforate anus-spinal defects) in monozygotic twins: a case report and literature review
Y. Q. Xu1, X. L. Chen2, S. Zhao2, P. W. Chen2, X. M. Yin1, S. Y. Xiong1, Z. Ding3, F. Xiong4, X. H. Yang2, *()
1Department of Ultrasound, Baoan Central Hospital of Shenzhen/The 5th affiliated hospital of Shenzhen University Health Science Center, 60 Xixiang Leyuan Street, Baoan district, Shenzhen, 518102, P.R. China
2Department of Ultrasound, Hubei Women and Children’s Hospital, 745 Wuluo Road, Wuhan, Hubei 430070, P.R. China
3The Institute of Metabolic Diseases, Baoan Central Hospital of Shenzhen/The 5th affiliated hospital of Shenzhen University Health Science Center, 60 Xixiang Leyuan Street, Baoan district, Shenzhen, 518102, P.R. China
4Department of Medical Genetics, School of Basic Medical Sciences, Southern Medical University, Guangzhou 510515, Guangdong, P.R. China
Download:  PDF(428KB)  ( 222 ) Full text   ( 7 )
Export:  BibTeX | EndNote (RIS)      

The omphalocele-exstrophy-imperforate anus-spinal defects (OEIS) complex represents severe midline abdominal and pelvic defects of unknown etiology. This complex is rare, affecting 1 in 200,000 to 400,000 pregnancies and is extremely rare in twin or triplet gestations. Here, we report the OEIS complex in a spontaneous monozygotic twin pregnancy and previously reported OEIS complex in twin or triplet pregnancy are reviewed. Spontaneous pregnancy and unremarkable family history, but concordance of monozygotic twins for the defect may support the theory that early malformation complexes, e.g., OEIS, may be related to errors in monozygotic splitting in early blastogenesis.

Key words:  Omphalocele-exstrophy-imperforate anus-spinal defects (OEIS)      Twin pregnancy     
Published:  15 April 2020     
Fund: WJ2018-H0148/Hubei Province health and family planning scientific research project
*Corresponding Author(s):  X. H. Yang     E-mail:

Cite this article: 

Y. Q. Xu, X. L. Chen, S. Zhao, P. W. Chen, X. M. Yin, S. Y. Xiong, Z. Ding, F. Xiong, X. H. Yang. OEIS complex (omphalocele-exstrophy-imperforate anus-spinal defects) in monozygotic twins: a case report and literature review. Clinical and Experimental Obstetrics & Gynecology, 2020, 47(2): 154-158.

URL:     OR

Figure 1.  — Figures of twins. (a): Twin A and B with an estimated gestational age of 15 weeks on ultrasonographic image. (b): Post-mortem examination showing a large abdominal wall defect in twin A and B. (c): Kyphoscoliosis of twin A and B on X ray film.

Table 1  — The reported 30 cases of OEIS complex in twins or triplets
Case No. Study Year Zygozity Concordance
1 Koffler et al. [5] 1978 monozygotic discordant
2 Schinzel et al. [6] 1979 monozygotic discordant
3 Ornoy et al. [7] 1980 monozygotic discordant
4 Nance [8] 1981 monozygotic discordant
5 Redman et al. [9] 1981 monozygotic concordant
6 Lowry and Baird [10] 1982 Not reported concordant
7 monozygotic concordant
8 Hesser et al. [11] 1984 Not reported discordant
9 Langer et al. [12] 1992 monozygotic discordant
10 Chitrit et al. [13] 1993 monozygotic concordant
11 Kapur et al. [14] 1994 monozygotic concordant
12 Meizner et al. [15] 1995 monozygotic discordant
13 monozygotic discordant
14 Bruch et al. [16] 1996 dizygotic discordant
15 Pinette et al. [17] 1996 Not reported discordant
16 Goldfischer et al. [18] 1997 monozygotic concordant
17 Kramer et al. [19] 1997 monozygotic concordant
18 Lee et al. [20] 1999 monozygotic concordant
19 Shanske AL et al. [21] 2003 trizygotic discordant
20 Siebert et al. [22] 2005 monozygotic concordant
21 Noack et al. [23] 2005 dizygotic concordant
22 Ben-Neriah et al. [24] 2007 dizygotic discordant
23 monozygotic concordant
24 Keppler-Noreuiletal. [25] 2007 monozygotic discordant
25 Not reported discordant
26 Not reported discordant
27 Yokoyama E et al. [26] 2007 trizygotic discordant
28 Tiblad et al. [27] 2008 Monozygotic discordant
29 Mathew R et al. [28] 2009 monozygotic discordant
30 Kunapinun N et al. [29] 2017 monozygotic discordant
[1] Carey J.C., Greenbaum B., Hall B.D.: “The OEIS complex (omphalocele, exstrophy, imperforate a.u., spinal defects)”. Birth Defects, 1978, 14, 253.
pmid: 728566
[2] Kallen K., Castilla E., Robert E., Mastroiacovo P., Kallen B.: “OEIS complex—A population study”. Am. J. Med. Genet., 2000, 92, 62.
doi: 10.1002/(sici)1096-8628(20000501)92:1<62::aid-ajmg11>;2-b pmid: 10797425
[3] Ebert A.K., Reutter H., Ludwig M., Rösch W.H.: “The exstrophyepispadias complex”. Orphanet. J. Rare Dis., 2009, 4, 23.
doi: 10.1186/1750-1172-4-23 pmid: 19878548
[4] Boyadjiev S.A., Dodson J.L., Radford C.L., Ashrafi G.H., Beaty T.H., Mathews R.I. et al.: “Clinical and molecularcharacterization of the bladder exstrophyepispadias complex: analysis of 232 families”. BJU Int., 2004, 94, 1337.
doi: 10.1111/j.1464-410X.2004.05170.x pmid: 15610117
[5] Koffler H., Aase J.M., Papile L.A., Coen R.W.: “Persistent cloaca with absent penis and anal atresia in one of identical twins”. J. Pediatr., 1978, 93, 821.
doi: 10.1016/s0022-3476(78)81092-0 pmid: 712494
[6] Schinzel A.A.G.L., Smith D.W., Miller J.R.: “Monozygotic twinning and structural defects”. J. Pediatr., 1979, 95, 921.
doi: 10.1016/s0022-3476(79)80278-4 pmid: 501497
[7] Ornoy A., Navot D., Menashi M., Laufer N., Chemke J.: “Asymmetry and discordance for congenital anomalies in conjoined twins: A report of six cases”. Teratology, 1980, 22, 145
doi: 10.1002/tera.1420220203 pmid: 7444804
[8] Nance W.E.: “Malformations unique to the twinning process”. Prog. Clin. Biol. Res., 1981, 69, 123.
[9] Redman J., Seibert J., Page B.: “Cloacal exstrophy in identical twins”. Urology, 1981, 17, 73.
doi: 10.1016/0090-4295(81)90017-0 pmid: 7456202
[10] Lowry R.B., Baird P.A.: “Familial gastroschisis and omphalocele”. Am. J. Hum. Genet., 1982, 34, 517.
[11] Hesser J.W., Murata Y., Swalwell C.I.: “Exstrophy of cloaca with omphalocele: Two cases”. Am. J. Obstet. Gynecol., 1984, 150, 1004.
doi: 10.1016/0002-9378(84)90403-4
[12] Langer J.C., Brennan B., Lappalainen R.E., Caco C.C., Winthrop A.L., Hollenberg R.D., et al.: “Cloacal exstrophy: Prenatal diagnosis before rupture of the cloacal membrane”. J. Pediatr. Surg., 1992, 27, 1352.
doi: 10.1016/0022-3468(92)90296-j pmid: 1403521
[13] Chitrit Y., Zorn B., Filidori M., Robert E., Chasseray J.E.: “Cloacal exstrophy in monozygotic twins detected through antenatal ultrasound scanning”. J. Clin. Ultrasound., 1993, 21, 339.
doi: 10.1002/jcu.1870210509 pmid: 8514902
[14] Kapur R.P., Jack R.M., Siebert J.R.: “Diamniotic placentation associated with omphalopagus conjoined twins: Implications for a contemporary model of conjoined twinning”. Am., J., Med. Genet., 1994, 52, 188.
[15] Meizner I., Levy A., Barnhard Y.: “Cloacal exstrophy sequence: An exceptional ultrasound diagnosis”. Obstet. Gynecol., 1995, 86, 446.
doi: 10.1016/0029-7844(95)00185-T pmid: 7651659
[16] Bruch S.W., Adzick N.S., Goldstein R.B., Harrison M.R.: “Challenging the embryogenesis of cloacal exstrophy”. J. Pediatr. Surg., 1996, 31, 768.
doi: 10.1016/s0022-3468(96)90128-1 pmid: 8783098
[17] Pinette M.G., Pan Y.Q., Pinette S.G., Stubblefield P.G., Blackstone J.: “Prenatal diagnosis of fetal bladder and cloaca exstrophy by ultrasound: A report of three cases”. J. Reprod. Med., 1996, 41, 132.
pmid: 8656415
[18] Goldfischer E.R., Almond P. S., Statter M.B., Miller G., Arensman R.M., Cromie W.J.: “Omphalopagus twins with covered cloacal exstrophy”. J. Urol., 1997, 157, 1004.
pmid: 9072534
[19] Kramer R., Johnson M., Qureshi F., Jacques S., Yaron Y., Evans M.: “Concordance for cloacal dysgenesis”. Fetal. Diagn. Ther., 1997, 12, 279.
doi: 10.1159/000264485 pmid: 9430208
[20] Lee D.H., Cottrell J.R., Sanders R.C., Meyers C.M., Wulfsberg E.A., Sun C.C.J.: “OEIS complex (omphalocele-exstrophyimperforate anus-spinal defects) in monozygotic twins”. Am. J. Med. Genet., 1999, 84, 29.
pmid: 10213043
[21] Shanske A.L., 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.
doi: 10.1002/bdra.10058 pmid: 12962293
[22] Siebert J.R., Rutledge J.C., Kapur R.P.: “Association of cloacal anomalies, caudal duplication, and twinning”. Pediatr. Dev. Pathol., 2005, 8, 339.
doi: 10.1007/s10024-005-1157-6 pmid: 16010492
[23] Noack F., Sayk F., Gembruch U.: “Omphalocoele-exstrophyimperforate anus-spinal defects complex in dizygotic twins”. Fetal. Diagn. Ther., 2005, 20, 346.
doi: 10.1159/000086810 pmid: 16113551
[24] Ben-Neriah Z., Withers S., Thomas M., Toi A., Chong K., Pai A., et al.: “OEIS complex: Prenatal ultrasound and autopsy findings”. Ultrasound Obstet. Gynecol., 2007, 29, 170.
doi: 10.1002/uog.3874 pmid: 17221944
[25] Keppler-Noreuil K., Gorton S., Foo F., Yankowitz J., Keegan C.: “Prenatal ascertainment of OEIS complex/cloacal exstrophy—15 new cases and literature review”. Am. J. Med. Genet. Part A., 2007, 143A, 2122.
doi: 10.1002/ajmg.a.31897 pmid: 17702047
[26] Yokoyama E., Del Castillo V., Ramos S., Angel A.G.: “Omphalocele, bladder exstrophy, imperforate anus, spine defects complex, and bilateral cleft lip and palate in one product of a triplet pregnancy obtained by in vitro fertilization: a case report”. Am. J. Med. Genet. A., 2007, 143A, 1933.
doi: 10.1002/ajmg.a.31828 pmid: 17632776
[27] Tiblad E., Wilson D., Carr M., Flake A., Hedrick H., Johnson M.: “OEIS sequence—A rare congenital anomaly with prenatal evaluation and postnatal outcome in six cases”. Prenat. Diagn., 2008, 28, 141.
doi: 10.1002/pd.1940 pmid: 18236426
[28] Mathew R., Steffensen T.S., Gilbert-Barness E.: “Discordant omphalocele-exstrophy-imperforate anus-spinal defects (OEIS) complex and cardiac malformations in monochorionic twins”. Fetal Pediatr. Pathol., 2009, 28, 279.
doi: 10.1080/15513810903202570 pmid: 19842883
[29] Kunapinun N., Treetipsatit J.: “Discordant Anomalies with Com- bined Features of Pentalogy of Cantrell and OEIS Complex: A Case Report in Monochorionic Twins”. Fetal. Pediatr. Pathol., 2017, 36, 357.
doi: 10.1080/15513815.2017.1332122 pmid: 28617177
[30] Paidas C.N., Morreale R.F., Holoski K.M., Lund R.E., Hutchins G.M.: “Septation and differentiation of the embryonic human cloaca”. J. Pediatr. Surg., 1999, 34, 877.
doi: 10.1016/s0022-3468(99)90391-3 pmid: 10359199
[31] Marshall V., Muecke E.: “Variations in exstrophy of the bladder”. J. Urol., 1962, 88, 766.
doi: 10.1016/S0022-5347(17)64883-3
[32] Gray S.K., Skandalakis J.R. : “The colon and rectum. In: Embryology for surgeons”. Philadelphia: W.B. Saunders, 1972, 187.
[33] Langer J.C., Brennan B., Lappalainen R.E., Caco C.C., Winthrop A.L., Hollenberg R.D., et al.: “Cloacal exstrophy: Prenatal diagnosis before rupture of the cloacal membrane”. J. Pediatr. Surg., 1992, 27, 1352.
doi: 10.1016/0022-3468(92)90296-j pmid: 1403521
[34] Bruch S.W., Adzick N.S., Goldstein R.B., Harrison M.R.: “Challenging the embryogenesis of cloacal exstrophy”. J. Pediatr. Surg., 1996, 31, 768.
doi: 10.1016/s0022-3468(96)90128-1 pmid: 8783098
[35] Manzoni G.A., Ransley P.G., Hurwitz R.S.: “Cloacal exstrophy and cloacal exstrophy variants: a proposed system of classification”. J. Urol., 1987, 138, 1065.
doi: 10.1016/s0022-5347(17)43503-8 pmid: 3656561
[36] 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.
doi: 10.1002/ajmg.1320470617 pmid: 8279488
[37] Mandrekar S.R., Amoncar S., Banaulikar S., Sawant V., Pinto R.G.: “Omphalocele, exstrophy of loaca, imperforate anus and spinal defect (OEIS Complex) with overlapping features of body stalk anomaly (limb body wall complex)”. Indian J. Hum. Genet., 2014, 20, 195.
doi: 10.4103/0971-6866.142906 pmid: 25400352
[38] Fullerton B.S., Sparks E.A., Hall A.M., Velazco C.S., Modi B.P., Lund D.P.: “High prevalence of same-sex twins in patients with cloacal exstrophy: Support for embryological association with monozygotic twin”. J. Pediatr. Surg., 2017, 52, 807.
doi: 10.1016/j.jpedsurg.2017.01.043 pmid: 28202184
[39] Nye J.S., Haynes E.A., Amendola M., Vaughn D., Charrow J., McLone D.G., et al.: “Myelocystocele-cloacal exstrophy in a pedigree with mitochondrial 12SrRNA mutation, aminoglycosideinduced deafness, pigmentary disturbances, and spinal anomalies”. Teratology, 2000, 61, 165.
doi: 10.1002/(SICI)1096-9926(200003)61:3<165::AID-TERA3>3.0.CO;2-E pmid: 10661905
[40] Keppler-Noreuil K.M.: “OEIS complex (omphaloceleexstrophyimperforate anus-spinal defects): A review of 14 cases”. Am. J. Med. Genet., 2001, 99, 271.
doi: 10.1002/1096-8628(2001)9999:9999<00::aid-ajmg1094>;2-# pmid: 11251992
[41] Thauvin-Robinet C., Faivre L., Cusin V., Van Kien V., Callier P., Parker K., 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 Part A., 2004, 30, 303.
[42] Kosaki R., Fukuhara Y., Kosuga M., Okuyama T., Kawashima N., Honna T., et al.: “OEIS complex with del(3)(q12.2q13.2). Am. J. Med. Genet. Part A. 2005, 135A, 224.
doi: 10.1002/(ISSN)1552-4833
[43] El-Hattab A.W., Skorupski J.C., Hsieh M.H., Breman A.M., Patel A., Cheung S.W., et al.: “OEIS complex associated with chromosome 1p36 deletion: A case report and review”. Am. J. Med. Genet A., 2010, 152A, 504.
doi: 10.1002/ajmg.a.33226 pmid: 20101692
[44] Çöllü M., Yüksel Ş., Şirin B.K., Abbasoğlu L., Alanay Y. : “Is 1p36 deletion associated with anterior body wall defects?” Am. J. Med. Genet A., 2016, 170, 1889.
doi: 10.1002/ajmg.a.37666 pmid: 27144803
[45] Vlangos C.N., Siuniak A., Ackley T., van Bokhoven H., Veltman J., Iyer R., et al.: “Keppler-Noreuil K, Keegan CE. Comprehensive genetic analysis of OEIS complex reveals no evidence for a recurrent microdeletion or duplication”. Am. J. Med. Genet A., 2011, 155A, 38.
doi: 10.1002/ajmg.a.33757
[1] Yun Chen, Yunli Lai, Shang Yi, Yanqing Tang, Yaqin Lei, Sheng Yi, Yiping Shen, Hongwei Wei. Non-invasive prenatal screening for fetal aneuploidy in twin pregnancies by cell-free DNA analysis[J]. Clinical and Experimental Obstetrics & Gynecology, 2018, 45(5): 656-660.
[2] H. Tanaka, S. Maki, M. Kubo, H. Yuasa, T. Umekawa, T. Ikeda. Treatment using tadalafil for dichorionic diamniotic twin pregnancy with fetal growth restriction[J]. Clinical and Experimental Obstetrics & Gynecology, 2018, 45(4): 591-593.
[3] Ze Chen, Xiaoping Lei, Yongjun Zhang. The effects of fetal gender on pregnancy induced hypertension in twin pregnancy[J]. Clinical and Experimental Obstetrics & Gynecology, 2018, 45(3): 353-356.
[4] HV. Gall, M. Cukelj, R. Ribicic, I. Djakovic, V. Kosec. Fetal tachyarrhythmia in twin pregnancy - case report[J]. Clinical and Experimental Obstetrics & Gynecology, 2018, 45(3): 450-451.
[5] A. Kitamura, Y. Kobayashi, Y. Hattori, K. Watanabe, M. Hino, T. Kurahashi, M. Miwa, I. Kamimaki, H. Nakagawa. Evaluation of vaginal delivery for twin pregnancy[J]. Clinical and Experimental Obstetrics & Gynecology, 2017, 44(4): 591-594.
[6] P. Tsikouras, B. Manav, A. Liberis, P. Naoumis, V. Souftas, G. Galazios. Twin pregnancy in a partial septate uterus and the contribution of magnetic resonance imaging. A case report and brief literature review[J]. Clinical and Experimental Obstetrics & Gynecology, 2017, 44(4): 630-633.
[7] T. Çift, E. Ertan Palabiyik, E. Korkmazer, T. Güçlü, E. Arslan Yildirim. Complete hydatidiform mole and a coexistent viable fetus: a case report and review of the literature[J]. Clinical and Experimental Obstetrics & Gynecology, 2017, 44(4): 642-644.
[8] E. Rodriguez, J.O. Zamora, I.R. Monfort, L. Rubert, S. Fuster, V. Diago, A. Perales. Unusual twin pregnancy: complete hydatidiform mole with coexistent normal fetus[J]. Clinical and Experimental Obstetrics & Gynecology, 2017, 44(3): 492-493.
No Suggested Reading articles found!