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Mulibrey nanism (muscle-liver-brain-eye nanism, pericardial constriction & growth failure)
Named mulibrey nanism for muscle, liver, brain, & eye.
Pathology:
1) raised venous pressure due to pericardial constriction with consequent hepatomegaly
2) involves several tissues of mesodermal origin, implying a defect in a highly pleiotropic gene
3) hypoplasia of various endocrine glands causing hormonal deficiency are common
Genetics:
- autosomal recessive
- caused by mutations in TRIM37 gene
Clinical manifestations:
1) growth failure evident at birth
2) triangular face often with hydrocephaloid skull
3) muscular hypotonia
4) peculiar voice
5) yellowish dots & pigment dispersion in the ocular fundi
6) 2/3 of patients have cutaneous nevi flammei
7) 1/3 have cystic dysplasia of the tibia
Radiology:
- J-shaped sella turcica
Related
E3 ubiquitin-protein ligase TRIM37; tripartite motif-containing protein 37; mulibrey nanism protein (TRIM37, KIAA0898, MUL, POB1)
General
genetic syndrome (multisystem disorder)
dwarfism (nanism)
Database Correlations
OMIM 253250
References
- OMIM :accession 253250
- UniProt :accession O94972