The cardiopathy of mulibrey nanism, a new inherited syndrome.

نویسندگان

  • L Tuuteri
  • J Perheentupa
  • J Rapola
چکیده

A syndrome characterized by prenatal-onset growth failure, muscular hypotonia, hepatomegaly, enlarged cerebral ventricles and cisternas, and distinctive changes in ocular fundi was first described1 in 1970. The condition was named mulibrey nanism to point out the organs most clearly involved : muscle, liver, brain, and eyes. With further cases being observed it became evident that more or less severe cardiac symptoms were present in most patients.2 The nature of the hemodynamic abnormality proved to be pericardial constriction in four patients who were treated by operation; in two others similar pericardial changes were found at autopsy. The condition is probably transmitted by an autosomal recessive gene.2 A general description

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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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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. Mulibrey nanism can be suspected clinically due to the distinctive features of the patients. The ...

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عنوان ژورنال:
  • Chest

دوره 65 6  شماره 

صفحات  -

تاریخ انتشار 1974