Mulibrey nanism: review of 23 cases of a new autosomal recessive syndrome.
Mulibrey (muscle, liver, brain, eye) nanism is probably an autosomal recessive condition characterized by progressive growth failure of prenatal onset, triangular face with hydrocephaloid skull, general thinness and muscular hypotonicity, peculiar voice, venous congestion caused by pericardial constriction, and pigment dispersion and yellowish dots in ocular fundi. Two thirds of the patients had cutaneous nevi flammei and one third cystic fibrous dysplasia of the tibia. Probably a substantial portion of the affected are lost by early abortion and others by infantile death. The physical capacity and life expectancy seem to vary depending on the degree of the cardiac affection.
D000293:Adolescent; D000328:Adult; D001927:Brain Diseases / Q000235:genetics; D002648:Child; D002675:Child, Preschool; D004392:Dwarfism / Q000235:genetics*; D005128:Eye Diseases / Q000235:genetics; D005260:Female; D005808:Genes, Recessive; D006331:Heart Diseases / Q000235:genetics; D006801:Humans; D007223:Infant; D008107:Liver Diseases / Q000235:genetics; D008297:Male; D009135:Muscular Diseases / Q000235:genetics