Indian Journal of Human Genetics
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CASE REPORT
Year : 2014  |  Volume : 20  |  Issue : 2  |  Page : 195-198

Omphalocele, exstrophy of cloaca, imperforate anus and spinal defect (OEIS Complex) with overlapping features of body stalk anomaly (limb body wall complex)


1 Department of Pathology, Goa Medical College, Bambolim, Goa, India
2 Department of Forensic Medicine, Goa Medical College, Bambolim, Goa, India
3 Department of Paediatric Surgery, Goa Medical College, Bambolim, Goa, India

Correspondence Address:
Suresh R. S. Mandrekar
2 Antil Peth, Bicholim - 403 504, Goa
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/0971-6866.142906

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OEIS is an extremely rare constellation of malformations, which includes omphalocele, exstrophy of cloaca, imperforate anus, and spinal defect. We report here autopsy findings in a case of OEIS complex, which apart from the major anomalies of the complex had bilateral club foot that is, congenital talipes equinovarus, right hydroureter, and body stalk anomaly. The umbilical cord was absent, and the umbilical vessels were embedded in an amniotic sheet, which connected the skin margin of the anterior body wall defect to the placenta, this feature being the hallmark of limb body wall complex (LBWC). This case further supports the view that OEIS and LBWC represent a continuous spectrum of abnormalities rather than separate conditions and may share a common etiology and pathogenetic mechanism as proposed by some authors.


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