Omphalocele, exstrophy of cloaca, imperforate anus and spinal defect (OEIS Complex) with overlapping features of body stalk anomaly (limb body wall complex).
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Date
2014-04
Authors
Mandrekar, Suresh R S
Amoncar, Sangeeta
Banaulikar, Siddhartha
Sawant, Vishal
Pinto, R G W
Journal Title
Journal ISSN
Volume Title
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Abstract
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.
Description
Keywords
Body stalk anomaly, limb body wall complex, OEIS complex (omphalocele, exstrophy of cloaca, imperforate anus and spinal defect)
Citation
Mandrekar Suresh R S, Amoncar Sangeeta, Banaulikar Siddhartha, Sawant Vishal, Pinto R G W. Omphalocele, exstrophy of cloaca, imperforate anus and spinal defect (OEIS Complex) with overlapping features of body stalk anomaly (limb body wall complex). Indian Journal of Human Genetics. 2014 Apr-Jun ; 20 (2): 195-198.