Report of two Syrian siblings with Mulibrey nanism

نویسندگان

  • Tareq Al Saadi
  • Mahmoud Alkhatib
  • Tarek Turk
  • Khaled Turkmani
  • Fatima Abbas
  • Lina Khouri
چکیده

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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منابع مشابه

Mulibrey Nanism in a 35 Year-Old Iranian Female with Constrictive Pericarditis

Mulibrey nanism is a rare autosomal recessive disorder characterized by severe growth retardation and pericardial constriction associated with muscle, liver, brain, and eye abnormalities. More than 80% of previously reported cases are Finnish. We report a 35-year-old Iranian female who presented with classic phenotypic features of Mulibrey nanism with symptomatic constrictive pericarditis and u...

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Constrictive Pericarditis and Primary Amenorrhea with Syndactyly in an Iranian Female: Mulibrey Nanism Syndrome

Mulibrey nanism is a rare autosomal recessive syndrome caused by a mutation in the TRIM37 gene with severe growth retardation and multiple organ involvement. Early diagnosis is important because 50% of the patients develop congestive heart failure owing to constrictive pericarditis, and this condition plays a critical role in the final prognosis. A 37-year-old female patient presented with symp...

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عنوان ژورنال:

دوره 2015  شماره 

صفحات  -

تاریخ انتشار 2015