MULIBREY NANISM, AN AUTOSOMAL RECESSIVE SYNDROME WITH PERICARDIAL CONSTRICTION

Abstract

"Mulibrey" (muscle, liver, brain, eye) nanism, a previously unknown syndrome, probably determined by an autosomal recessive gene, has been described in twenty-three patients aged 4 months to 23 years. Growth failure was evident at birth and was progressive. The characteristics are triangular face often with hydrocephaloid skull, gracility and muscular hypotonia, peculiar voice, enlarged liver, raised venous pressure, and yellowish dots and pigment dispersion in ocular fundi. Pericardial constriction seems to be a regular component of the syndrome. Two-thirds of the patients had cutaneous nævi flammei and a third had cystic dysplasia of tibia. The physical capacity and life expectancy seem to vary, depending on the degree of the cardiac lesion. Probably, a proportion of the affected offspring is lost by early abortion or infant death.