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

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 t...

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Autores principales: Mandrekar, Suresh R. S., Amoncar, Sangeeta, Banaulikar, Siddhartha, Sawant, Vishal, Pinto, R. G. W.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Medknow Publications & Media Pvt Ltd 2014
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4228575/
https://www.ncbi.nlm.nih.gov/pubmed/25400352
http://dx.doi.org/10.4103/0971-6866.142906
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author Mandrekar, Suresh R. S.
Amoncar, Sangeeta
Banaulikar, Siddhartha
Sawant, Vishal
Pinto, R. G. W.
author_facet Mandrekar, Suresh R. S.
Amoncar, Sangeeta
Banaulikar, Siddhartha
Sawant, Vishal
Pinto, R. G. W.
author_sort Mandrekar, Suresh R. S.
collection PubMed
description 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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spelling pubmed-42285752014-11-14 Omphalocele, exstrophy of cloaca, imperforate anus and spinal defect (OEIS Complex) with overlapping features of body stalk anomaly (limb body wall complex) Mandrekar, Suresh R. S. Amoncar, Sangeeta Banaulikar, Siddhartha Sawant, Vishal Pinto, R. G. W. Indian J Hum Genet Case Report 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. Medknow Publications & Media Pvt Ltd 2014 /pmc/articles/PMC4228575/ /pubmed/25400352 http://dx.doi.org/10.4103/0971-6866.142906 Text en Copyright: © Indian Journal of Human Genetics http://creativecommons.org/licenses/by-nc-sa/3.0 This is an open-access article distributed under the terms of the Creative Commons Attribution-Noncommercial-Share Alike 3.0 Unported, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Report
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)
title Omphalocele, exstrophy of cloaca, imperforate anus and spinal defect (OEIS Complex) with overlapping features of body stalk anomaly (limb body wall complex)
title_full Omphalocele, exstrophy of cloaca, imperforate anus and spinal defect (OEIS Complex) with overlapping features of body stalk anomaly (limb body wall complex)
title_fullStr Omphalocele, exstrophy of cloaca, imperforate anus and spinal defect (OEIS Complex) with overlapping features of body stalk anomaly (limb body wall complex)
title_full_unstemmed Omphalocele, exstrophy of cloaca, imperforate anus and spinal defect (OEIS Complex) with overlapping features of body stalk anomaly (limb body wall complex)
title_short Omphalocele, exstrophy of cloaca, imperforate anus and spinal defect (OEIS Complex) with overlapping features of body stalk anomaly (limb body wall complex)
title_sort omphalocele, exstrophy of cloaca, imperforate anus and spinal defect (oeis complex) with overlapping features of body stalk anomaly (limb body wall complex)
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4228575/
https://www.ncbi.nlm.nih.gov/pubmed/25400352
http://dx.doi.org/10.4103/0971-6866.142906
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