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 ...

MuLiBrEy nanism (also known as Perheentupa syndrome) is an autosomal recessive congenital disorder. A patient with Perheentupa syndrome has growth retardation and multiple organ manifestations in muscles, liver, brain, and eyes. Over 80% of patients are Finnish. A regular component of this syndrome is pericardial constriction. A 28-year-old patient was firstly diagnosed with an ovarian tumour. ...

Mulibrey nanism (MUL) is an autosomal recessive disorder that is enriched in the Finnish population. Variable degrees of pericardial and myocardial involvement can lead to heart failure and premature death. The purpose of this study was using magnetic resonance imaging (MRI) to assess structural and functional abnormalities of the MUL cardiopathy in all four cardiac chambers as well as in the p...