mulibrey nanism

mulibrey nanism
[muscle, liver, brain, and eyes] a rare autosomal recessive disorder due to mutation in the TRIM37gene (locus: 17q22-q23), which encodes a peroxisomal protein; marked by dwarfism and constrictive pericarditis. Affected infants have a triangular face often with hypocephaloid skull, muscular hypotonia, squeaky voice, and yellowish dots and pigment dispersion in the ocular fundus.

Medical dictionary. 2011.

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