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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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Detalles Bibliográficos
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
Descripción
Sumario: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.