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Warburg micro syndrome in siblings from India

Warburg syndrome is a rare disorder characterized by microcephaly, microcornea, congenital cataract, developmental delay, and hypogonadism. Here, we report two siblings from India who presented with developmental delay, microcornea, microphthalmia, and bilateral congenital cataracts, born to the thi...

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Autores principales: Sekhon, Prabhjot Kaur, Premalatha, R., Sabapathy, Sarala
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Medknow Publications & Media Pvt Ltd 2016
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4862300/
https://www.ncbi.nlm.nih.gov/pubmed/27195044
http://dx.doi.org/10.4103/1817-1745.181255
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author Sekhon, Prabhjot Kaur
Premalatha, R.
Sabapathy, Sarala
author_facet Sekhon, Prabhjot Kaur
Premalatha, R.
Sabapathy, Sarala
author_sort Sekhon, Prabhjot Kaur
collection PubMed
description Warburg syndrome is a rare disorder characterized by microcephaly, microcornea, congenital cataract, developmental delay, and hypogonadism. Here, we report two siblings from India who presented with developmental delay, microcornea, microphthalmia, and bilateral congenital cataracts, born to the third-degree consanguineously married couple. Both children had hypoplasia of corpus callosum. In this report, we aim to highlight and compare clinical features of these two cases with previously reported cases.
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spelling pubmed-48623002016-05-18 Warburg micro syndrome in siblings from India Sekhon, Prabhjot Kaur Premalatha, R. Sabapathy, Sarala J Pediatr Neurosci Case Report Warburg syndrome is a rare disorder characterized by microcephaly, microcornea, congenital cataract, developmental delay, and hypogonadism. Here, we report two siblings from India who presented with developmental delay, microcornea, microphthalmia, and bilateral congenital cataracts, born to the third-degree consanguineously married couple. Both children had hypoplasia of corpus callosum. In this report, we aim to highlight and compare clinical features of these two cases with previously reported cases. Medknow Publications & Media Pvt Ltd 2016 /pmc/articles/PMC4862300/ /pubmed/27195044 http://dx.doi.org/10.4103/1817-1745.181255 Text en Copyright: © 2016 Journal of Pediatric Neurosciences 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-ShareAlike 3.0 License, which allows others to remix, tweak, and build upon the work non-commercially, as long as the author is credited and the new creations are licensed under the identical terms.
spellingShingle Case Report
Sekhon, Prabhjot Kaur
Premalatha, R.
Sabapathy, Sarala
Warburg micro syndrome in siblings from India
title Warburg micro syndrome in siblings from India
title_full Warburg micro syndrome in siblings from India
title_fullStr Warburg micro syndrome in siblings from India
title_full_unstemmed Warburg micro syndrome in siblings from India
title_short Warburg micro syndrome in siblings from India
title_sort warburg micro syndrome in siblings from india
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4862300/
https://www.ncbi.nlm.nih.gov/pubmed/27195044
http://dx.doi.org/10.4103/1817-1745.181255
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