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Report of two Syrian siblings with Mulibrey nanism
Tareq Al Saadi1, Mahmoud Alkhatib1, Tarek Turk1
1Faculty of Medicine , University of Damascus , Damascus , Syrian Arab Republic.
Abstract:
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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