Journal of Evolution of Medical and Dental Sciences/ Volume 2/ Issue 48/ December 02, 2013 Page 9410
OEIS COMPLEX: A RARE CASE REPORT
Bharadwaj Mishra1, Lakshmi Sujani C.H2
HOW TO CITE THIS ARTICLE:
Bharadwaj Mishra, Lakshmi Sujani CH. “OEIS complex: a rare case report”. Journal of Evolution of Medical and
Dental Sciences 2013; Vol2, Issue 48, December 02; Page: 9410-9414.
ABSTRACT: The OEIS complex comprises of a combination of defects including Omphalocele,
Exstrophy of the cloaca, Imperforate anus and Spinal defects. It represents the most severe
manifestation of EES (exstrophy - epispadias sequence). It results from defective blastogenesis in
4th week of gestation, resulting in improper closure of anterior abdominal wall and defective
development of cloaca and urogenital septum. A third gravida with previous normal obstetric
history was diagnosed by prenatal ultrasound to have a grossly malformed fetus. It was
provisionally diagnosed as OEIS complex by non- visualisation of bladder, presence of omplalocele,
limb and spinal defects in the ultrasound.Hysterotomy confirmed the defects in the dead baby,
which was further confirmed by autopsy, fetal CT scan and X-ray. Prognosis depends on severity of
bladder exstrophy and neural tube defects. Likewise, management varies from interruption of
pregnancy in severe cases to appropriate perinatal management in less severe cases by team of
obstetricians, neonatologists, pediatric surgeons and neurosurgeons.
KEYWORDS: Exstrophy of cloaca, Omphalocele, Imperforate anus, Epispadias
INTRODUCTION: OEIS (Omphalocele Exstrophy of cloaca Imperforate anus and Spinal defects)
complex is a rare fetal polymalformation of uncertain etiology, has been regarded as sporadic in
nature with a low recurrence risk.It results from abnormal closure of ventricular abdominal due to
failure of convergence of cephalo-caudal and lateral folidings of embryo during blastogenesis
associated with defective development of cloaca and urogenital septum. OEIS complex represents
most severe form of Exstrophy Epispadias Complex (EEC). EEC includes spectrum of urogenital
abnormalities ranging from less severe Classical Bladder Exstrophy to most severe Exstrophy of
cloaca. (1) It is a rare disorder affecting about 1 in 200, 000 to 400, 000 pregnancies. In the present
case all the four classical features are seen in addition to gastrointestinal malformations and absence
of gonads and internal genital organs.
CASE REPORT: An unbooked case of 29 year old third gravida (G3P2L2) came to OPD of OBGY dept
of ASRAM medical college at 16 weeks of gestation for routine antenatal care. She was advised TIFA
scan which revealed severely malformed fetus. Her obstetric history was significant for two previous
C-sections for recurring cause (CPD) having healthy children without any congenital anomalies. She
had not taken folic acid and iron supplementation, no history of any other medications. There was
no history of diabetes or any other medical disorders. No history of consanguity and no family
history of congenital malformations. Not habituated to smoking nor addicted to alcohol.
On examination of the abdomen fundal height corresponding to 18 weeks was noticed. On
vaginal examination cervix was posterior, firm, with os closed. Hematological and biochemical
parameters were normal. She was advised TIFA scan. Ultrasound report showed a grossly
malformed fetus of estimated gestational age 15 wks 4 days based on biometry (BPD, HC, FL). Scan
also revealed an ill defined anterior abdominal wall defect through which abdominal contents
Journal of Evolution of Medical and Dental Sciences/ Volume 2/ Issue 48/ December 02, 2013 Page 9411
herniated into extra embryonic coelom. Protruded organs formed a complex of large loculated fluid
filled cystic spaces outside abdomen. Ultrasound also showed scoliosis deformity with short spine,
meningocele at lumbosacral area, bilaterally dilated ventricles in head. Heart was intrathoracic with
cardiac pulsations at 146 bpm. Both kidneys were visualized and were outside the abdominal wall in
the herniated sac. Bladder was not visualized. Possibility of clubfoot deformity was there. Placenta
was posterior with cord insertion not properly visualized. TORCH profile of the mother was normal.
A provisional diagnosis of OEIS was made based on ultrasound description. She was admitted in the
department of OBGY for termination of her pregnancy after explaining poor prognosis of fetus (IP
REGD NO.2013040060) on 03-10-2013 Induction of abortion was not done due to prior two C-
sections. Patient was taken up for hysterotomy. Bilateral tubectomy was also done as she had two
healthy children and was not intending to conceive again. Fetus presented as vertex and delivered as
such, weighing 860gms.It was gasping and died immediately. Placenta was found adherent to
uterine wall at previous scar line and hence removed manually. Fetus with placenta sent for autopsy
Fig.1: Post op picture showing omphalocele
Fig.2: postop picture showing
Fig. 3: CT picture of fetus
Fig.4: viscera in fetal autopsy
Journal of Evolution of Medical and Dental Sciences/ Volume 2/ Issue 48/ December 02, 2013 Page 9412
Autopsy report on external examination showed a large head, a 12 x 10cm defect in anterior
abdominal wall, exstrophy of bladder. Anal opening was absent in perineal region. External genitalia
were absent. Lumbosacral meningocele was seen. Fetal spine showed scoliosis and both the limbs
were rotated to one side. Umbilical cord was short (12 centimeters), showing two arteries and one
vein. On internal examination, thoracic cavity was normal. There was malrotation of gastrointestinal
system. Liver with coils of small intestine was seen on left side. Stomach, cecum with appendix and
colon were on right side. Liver was enlarged. Gall bladder was not visualized. Intestines were dilated
and anal canal was not seen. Both kidneys and adrenals were in their anatomical position. Ureters
were identified. Exstrophy of bladder was seen. Size of head was large compared to its age. Brain
was hypo plastic with ill formed gyri and sulci.
DISCUSSION: The first description of case was published by Littre et al in 1709 (2). The term OEIS
complex was first used by Carey et al in 1978. He described a congenital syndrome with multiple
malformations including omphalocele, exstrophy of bladder, imperforate anus and spinal defects (3).
Previous terminologies used were Ectopia of cloaca, Vesico- intestinal fissure, Exstrophy splanchna.
Subsequently in addition to the four classical manifestations, its association with genital renal and
skeletal abnormalities like spina bifida, symphysis pubis diastasis and limb abnormalities were
statistically demonstrated. (4)
The occurrence of exstrophy of the bladder appears to be more common (1:30 000 to 1:40
000) than exstrophy of cloaca (1:200.000 to 250.000) or pregnancies with OEIS complex (1:200.000
to 1:400.000) (5). The incidence of OEIS is probably higher because many cases are diagnosed
incorrectly as omphalocele, which is the most prominent component of this malformation complex
(6). A male predominance was observed in the original report by Carey et al. (7) Schinzel et al
(1979) estimated that 10% of cloacal exstrophy occur in same sex twins and suggested that multiple
pregnancies and early malformations like exstrophy are related (3). Karyotyping is usually normal
according to Witters et al (8).
Etiology is unknown but several associations have been suggested. Most frequently it is of
sporadic in occurrence. Possibility of teratogenic exposure with diazepam (9), diphenylhydantoin
(3), genetic factors such as trisomy 18 (7), single gene defects in blastogenesis and mutations in
homeobox genes such as HLXB9 (3) have been suggested. Higher incidence in monozygotic twins
suggest a possible genetic contribution to occurrence of this multisystem defect (6). Recurrence of
omphalocele or bladder exstrophy in siblings have been documented with a risk less than 1% (4).
OEIS is considered to be a defect in blastogenesis, beginning in the first four weeks of human
development. According to different authors, OEIS has probably a heterogeneous etiology and may
result from a single localized defect in early caudal mesoderm at approximately 29 days of
development and it is thought to lead to one of three defects (1):.failure of cloacal septation resulting
in a common cloaca, breakdown of cloacal membrane resulting in omphalocele and exstrophy or
incomplete vertebral fusion resulting in open neural defects.
Early diagnosis is possible by TIFA scan, which may show absence of filled up well
circumscribed bladder, persistence of physiological herniation of intestinal contents beyond 8 to 10
weeks of pregnancy, omphalocele, associated spinal defects and minor criteria like lower extremities
malformations, renal anomalies, ascites, widened pubic arch, narrow thorax, hydrocephalous, single
umbilical artery. According to literature sonographic findings of OEIS complex have been
Journal of Evolution of Medical and Dental Sciences/ Volume 2/ Issue 48/ December 02, 2013 Page 9413
documented but only few cases of prenatal diagnosis have been reported. In our case based of
ultrasound, prenatal diagnosis is made and patient is informed of poor prognosis and counseled for
termination of pregnancy.
Differential diagnosis includes omphalocele and gastroschisis. Both conditions are excluded
from OEIS complex by presence of normally filling bladder in ultrasound in those conditions. There
is significant overlap between OEIS complex and limb body wall complex (11) but OEIS complex is
recognized by absent bladder. Others include Pentology of Cantrell which can be differentiated by its
characteristic anterior thoracic defects and absence of spinal defects. Amniotic band syndrome,
Aneuploidy are other differential diagnosis.
CONCLUSION: OEIS is a rare polymalformative syndrome possible to detect by an antenatal
ultrasound. Prognosis depends on extent ion of bladder exstrophy and neural tube defects. So early
prenatal diagnosis is required to give parents the option to terminate pregnancy and also helpful to
plan appropriate perinatal management in less severe cases.
1. Ebert AK, Heiko Reutter, Michael Ludwig and Wolfgang H Rösch. The Exstrophy-epispadias
complex. Orphanet Journal of Rare Diseases 2009; 4:23. doi:10.1186/1750-1172-4-23.
2. Smith N.M., Chambers H.M., Furness M.E., Haan E.A.- the OEIS complex: reccurence in sibs. J
med Genet 1992 ; 29 : 730-2.
3. Shanske A.L., Pande S., Aref K., Vega-Ric C., Brion L., Reznik S., Timor-Tritsch I.E.- Omphalocele-
exstrophy-imperforate anus-spinal defects (OEIS) in triplet pregnancy after IVF and CVS. Birth
defects research (part A) 2003 ; 67 : 467-71.
4. Kallen, K., Castilla, E. E., Robert, E., Mastroiacovo, P., Kallen, B. OEIS complex--a population
study. Am. J. Med. Genet 2000; 92: 62-8.
5. Austin P.F., Homsy Y.L., Gearhart J.P., Porter K., Guidi C., madsen K., maizels M.- The prenatal
diagnosis of cloacal exstrophy. J Urol 1998 ; 160 ; 1179-81.
6. Lee D.H., Cottrell J.R., Sanders R.C., Meyers C.M., Wulfsberg E.A., Sun C.C.J- OEIS complex
(Omphalocele-Exstrophy-Imperforate anus-Spinal defects) in Monozygotic twins. Am J med
genetics 1999 ; 84 : 29-33.
7. Keppler-Noreuil K.M.- OEIS (Omphalocele-Exstrophy-Imperforate anus-Spinal defects) : a
review of 14 cases. Am J Med Genetics 2001 ; 99 : 271-9.
8. Witters I., Deprest J., Van Hole C., Hanssens M., Devlieger H., Fryns J.P.- Anogenital
malformation with ambiguous genitalia as part of the OEIS complex. Ultrasound Obstet
Gynecol 2004 ; 24 : 797-8.
9. Girz B.A., Sherer D.M., Atkin J., Venanzi M., Ahlborn L., Cestone L.- First-trimester prenatal
sonographic findings associated with OEIS complex ; a case and review of the literature. Am J
Perinat 1998 ; 15 : 15-7.
10. Haldar A., Sharma A.K., Phadke S.R., Jain A., Agarwal S.S.- OEIS Complex with cranio-facial
anomalies- defect or blastogenesis. Am J Med Genetics 1994 ; 53 : 21-3.
11. Bohring A.- OEIS complex, VATER and the ongoing difficulties in eterminology and delineation.
Zm J Med genetics 2002 ; 107 : 72-6.
Journal of Evolution of Medical and Dental Sciences/ Volume 2/ Issue 48/ December 02, 2013 Page 9414
1. Bharadwaj Mishra
2. Lakshmi Sujani C.H.
PARTICULARS OF CONTRIBUTORS:
1. Assistant Professor, Department of Obstetrics
and Gynaecology, Asram Medical College,
2. Post Graduate Student, Department of
Obstetrics and Gynaecology, Asram Medical
NAME ADRRESS EMAIL ID OF THE
Dr. Bharadwaj Mishra,
Department of Obstetrics and Gynaecology,
Asram Medical College, Eluru, A.P.
Email – email@example.com
Date of Submission: 06/11/2013.
Date of Peer Review: 07/11/2013.
Date of Acceptance: 22/11/2013.
Date of Publishing: 28/11/2013