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Report of two Syrian siblings with Mulibrey nanism
Mulibrey (MUscle–LIver–BRain–EYe) nanism is a rare autosomal recessive disease characterized by growth failure, dysmorphic features and a wide range of abnormalities affecting multiple organ systems. This report is the first to present two cases of Mulibrey nanism affecting two siblings from Syria....
Autores principales: | , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Oxford University Press
2015
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4672230/ https://www.ncbi.nlm.nih.gov/pubmed/26664725 http://dx.doi.org/10.1093/omcr/omv065 |
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author | Al Saadi, Tareq Alkhatib, Mahmoud Turk, Tarek Turkmani, Khaled Abbas, Fatima Khouri, Lina |
author_facet | Al Saadi, Tareq Alkhatib, Mahmoud Turk, Tarek Turkmani, Khaled Abbas, Fatima Khouri, Lina |
author_sort | Al Saadi, Tareq |
collection | PubMed |
description | Mulibrey (MUscle–LIver–BRain–EYe) nanism is a rare autosomal recessive disease characterized by growth failure, dysmorphic features and a wide range of abnormalities affecting multiple organ systems. This report is the first to present two cases of Mulibrey nanism affecting two siblings from Syria. Mulibrey nanism can be suspected clinically due to the distinctive features of the patients. The aim of this report is to document the presence of Mulibrey nanism in Syria and to familiarize physicians in and out of Syria with this rare disease and encourage them to develop high clinical suspicion if faced with patients with similar presentations. |
format | Online Article Text |
id | pubmed-4672230 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2015 |
publisher | Oxford University Press |
record_format | MEDLINE/PubMed |
spelling | pubmed-46722302015-12-09 Report of two Syrian siblings with Mulibrey nanism Al Saadi, Tareq Alkhatib, Mahmoud Turk, Tarek Turkmani, Khaled Abbas, Fatima Khouri, Lina Oxf Med Case Reports Case Reports Mulibrey (MUscle–LIver–BRain–EYe) nanism is a rare autosomal recessive disease characterized by growth failure, dysmorphic features and a wide range of abnormalities affecting multiple organ systems. This report is the first to present two cases of Mulibrey nanism affecting two siblings from Syria. Mulibrey nanism can be suspected clinically due to the distinctive features of the patients. The aim of this report is to document the presence of Mulibrey nanism in Syria and to familiarize physicians in and out of Syria with this rare disease and encourage them to develop high clinical suspicion if faced with patients with similar presentations. Oxford University Press 2015-12-08 /pmc/articles/PMC4672230/ /pubmed/26664725 http://dx.doi.org/10.1093/omcr/omv065 Text en © The Author 2015. Published by Oxford University Press. http://creativecommons.org/licenses/by-nc/4.0/ This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/4.0/), which permits non-commercial re-use, distribution, and reproduction in any medium, provided the original work is properly cited. For commercial re-use, please contact journals.permissions@oup.com |
spellingShingle | Case Reports Al Saadi, Tareq Alkhatib, Mahmoud Turk, Tarek Turkmani, Khaled Abbas, Fatima Khouri, Lina Report of two Syrian siblings with Mulibrey nanism |
title | Report of two Syrian siblings with Mulibrey nanism |
title_full | Report of two Syrian siblings with Mulibrey nanism |
title_fullStr | Report of two Syrian siblings with Mulibrey nanism |
title_full_unstemmed | Report of two Syrian siblings with Mulibrey nanism |
title_short | Report of two Syrian siblings with Mulibrey nanism |
title_sort | report of two syrian siblings with mulibrey nanism |
topic | Case Reports |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4672230/ https://www.ncbi.nlm.nih.gov/pubmed/26664725 http://dx.doi.org/10.1093/omcr/omv065 |
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