OEIS complex: a rare foetal anomaly

Neelamma G. Patil, Subash R. Mudanur, Aruna S. Nemagouda, Shreedevi S. Kori, Lubna Y. Lahori

Abstract


OEIS (Omphalocele, extrophy of bladder/cloaca, imperforate anus, spinal defects) is a rare constellation of malformations involving multiple organs in humans. It is the most serious manifestation of exstrophy-epispadias sequence. The exact aetiology of this condition is not known. It is sporadic but genetic associations have also been hypothesised. It results from defective blastogenesis leading to improper closure of anterior abdominal wall and defective development of cloacae and urogenital septum. Incidence ranges from 1 in 200000 to 1 in 400000. Prenatal diagnosis of OEIS complex can be done by anomaly scan between 18 to 22 weeks of gestation. It carries a poor prognosis. Survival is nil or very less. Even if baby survives it requires multiple surgeries with many potential complications. We had an undiagnosed case of this complex presenting to us in advanced labour, but a timely ultrasound helped in the diagnosis and avoided an unnecessary caesarean section which we would have done for an elderly primigravida with breech presentation.

Keywords


OEIS complex, Foetal anomaly, Anomaly scan

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References


Christopher N. Vlangos, Amanda Siuniak, Todd Ackley, Hans Van Bokhove, Joris Veltman, Ram Iyer, et al. Comprehensive genetic analysis of OEIS complex reveals no evidence for a recurrent microdeletion or duplication. Am J Med Genet Part A. 2001;155:38-49.

Subhatra Devi V, Md. K. Faheem N, Vidyavathi Ch. Usharani V. OEIS complex: a rare case report. Int J Res Dev Health. 2013;1(1):21-5.

Ayman W. El-Hattab, Josh C. Skorupski, Michael H. Hsieh, Amy M, Sau Wai Cheung. OEIS complex associated with 1p 36 deletion. Am J Med Genet Part A. 2009;152A:504-11.

Sunita Arvind Athavale. Deciphering caudal embryonic defects: embryological analysis and reviewing literature data. Rom J Morphol Embryol. 2012;53(4):1013-20.

Martinez Frias ML, Bermejo E, Rodriguez-Pinilla E, Frias JL. Exstrophy of cloaca and exstrophy of bladder. Two different expression of primary developmental field defect. Am J Med Genet. 2001;99:261-9.

Smith NM, Cambers HM, Furness ME, Haan EA. The OIES complex recurrence in sibs. J Med Genet. 1992;29:730-2.

Carey JC, Greenbaum B, Hall BD. The OEIS complex (omphalocele, exstrophy, imperforate anus, spinal defects). Birth Defects. 1978;14:253-63.

Keppler Noreuril KM. OEIS Complex (omphalocoele-exstrophy-imperfrote anus-spinal defects): a review of 14 cases. Am J Med Genet. 2001;99-271-9.

Noack F, Sayk F, Gembruch U. Omphalocele exstrophy imperforate anus defects complex in dizygotic twins. Foetal Diagn Ther. 2005;20:346-8.

Tiblad E, Wilson D, Carr M, Flake A, Hedrick H, Johnson M, et al. OEIS sequence: a rare congenital anomaly with prenatal evaluation and postnatal outcome in six cases. Prenatal Diagn. 2001;28:141-7.




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