نتایج جستجو برای: mulibrey nanism • pericarditis

تعداد نتایج: 4245  

2011
Neda Behzadnia Babak Sharif–Kashani Zargham-Hossein Ahmadi Seyed Mohsen Mirhosseini

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...

2016
Tahereh Davarpasand Maryam Sotoudeh Anvari Mohammad Naderan Mohammad Ali Boroumand Hossein Ahmadi

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...

2015
Tareq Al Saadi Mahmoud Alkhatib Tarek Turk Khaled Turkmani Fatima Abbas Lina Khouri

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 ...

Journal: :the journal of tehran university heart center 0
tahereh davarpasand tehran heart center, tehran university of medical sciences, tehran, iran. maryam sotoudeh anvari tehran heart center, tehran university of medical sciences, tehran, iran. mohammad naderan tehran heart center, tehran university of medical sciences, tehran, iran. mohammad ali boroumand tehran heart center, tehran university of medical sciences, tehran, iran. hossein ahmadi tehran heart center, tehran university of medical sciences, tehran, iran.

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...

2003
Marita Lipsanen-Nyman

Background—Mulibrey nanism is a rare inherited disease characterized by growth failure and multiorgan manifestations, including constrictive pericarditis. Its long-term course, the results of pericardiectomy, and the details of myocardial involvement have not been reported previously. Methods and Results—We studied 49 patients (26 men) born before 1985 and followed for up to 25 years. By 1999, ...

Journal: :Atlas of Genetics and Cytogenetics in Oncology and Haematology 2018

Journal: :Circulation 2003
Marita Lipsanen-Nyman Jaakko Perheentupa Juhani Rapola Anssi Sovijärvi Markku Kupari

BACKGROUND Mulibrey nanism is a rare inherited disease characterized by growth failure and multiorgan manifestations, including constrictive pericarditis. Its long-term course, the results of pericardiectomy, and the details of myocardial involvement have not been reported previously. METHODS AND RESULTS We studied 49 patients (26 men) born before 1985 and followed for up to 25 years. By 1999...

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