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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...
Autores principales: | , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
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Medknow Publications & Media Pvt Ltd
2016
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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. |
format | Online Article Text |
id | pubmed-4862300 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2016 |
publisher | Medknow Publications & Media Pvt Ltd |
record_format | MEDLINE/PubMed |
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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