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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....

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Autores principales: Al Saadi, Tareq, Alkhatib, Mahmoud, Turk, Tarek, Turkmani, Khaled, Abbas, Fatima, Khouri, Lina
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2015
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.
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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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