Mulibrey nanism.
Investigation of a 4-year-old boy with 'Russell-Silver-phenotype' led to the relatively rare diagnosis of Mulibrey nanism. Subsequently cardiac investigation confirmed a constrictive pericarditis which is characteristic of this syndrome, although not included in the acronym (muscle, liver, brain, eye). Identification of this syndrome is important for genetic counselling of the parents (25% recurrence risk, McKusick No. 253250).
Balg
S
S
Department of Genetics, University of Munich, Germany.
Stengel-Rutkowski
S
S
Döhlemann
C
C
Boergen
K
K
D002675:Child, Preschool; D004392:Dwarfism / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D005124:Eye Abnormalities / Q000235:genetics; D005145:Face / Q000002:abnormalities; D006801:Humans; D008297:Male; D010494:Pericarditis, Constrictive / Q000235:genetics; D010641:Phenotype; D013577:Syndrome