hereditary multiple exostoses

(redirected from multiple exostosis)

he·red·i·tar·y mul·ti·ple ex·os·to·ses

[MIM*133700]
a disturbance of endochondral bone growth in which multiple, generally benign osteochondromas of long bones appear during childhood, commonly with shortening of the radius and fibula; the skull is not involved; the ill effects are usually mechanical but malignant change is rare; autosomal dominant inheritance with genetic heterogeneity. Type I is caused by a mutation in the exostosis-1 gene (EXT1) on 8q, type II is due to mutation in the exostosis-2 gene (EXT2) and type III maps to 19p.

he·red·i·tar·y mul·ti·ple ex·os·to·ses

(hĕr-edi-tar-ē mŭlti-pĕl eksos-tōsēz)
Disturbance of endochondral bone growth in which multiple, generally benign osteochondromas of long bones appear during childhood, commonly with shortening of the radius and fibula; the skull is not involved; the ill effects are usually mechanical but malignant change is rare.

he·red·i·tar·y mul·ti·ple ex·os·to·ses

(hĕr-edi-tar-ē mŭlti-pĕl eksos-tōsēz) [MIM*133700]
Disturbance of endochondral bone growth in which multiple, generally benign osteochondromas of long bones appear during childhood, commonly with shortening of the radius and fibula. Cranium is not involved.
References in periodicals archive ?
Malignant transformation of osteochondroma is more common in hereditary multiple exostosis (HME) [3].
Malagon, "Development of hip dysplasia in hereditary multiple exostosis," Journal of Pediatric Orthopaedics, vol.
Porat, "Progressive subluxation of the hip joint in a child with hereditary multiple exostosis," Journal of Pediatric Orthopaedics B, vol.
A novel mutation in the EXT1 gene identified in a Han Chinese kindred with hereditary multiple exostosis. Genet Test Mol Biomarkers 2010 Jun; 14 (3):371-6.
Natalie, who lives with husband Nick in Wallasey, suffers from a genetic condition called hereditary multiple exostosis. Affecting around one in 50,000 people it means she develops bony growths which can then catch on muscles and tendons resulting in severe pain and restricted movement.
Diaphyseal aclasis, also termed Hereditary Multiple Exostosis (HME) or osteochondromatosis is characterised by multiple bony prominences that grow near joint lines throughout the skeleton.
Yet Ethan, seven, suffers from a rare hereditary condition called multiple exostosis which causes painful lumps to grow from his bones and joints - restricting his movements.
Only 1,3% to 4,1% of solitary osteochondromas arise in spine and occur in approximately 9% of patients who are affected by hereditary multiple exostosis [4,11].
Multiple osteochondromas are associated with syndromes like hereditary multiple exostosis. (2)
Hereditary multiple exostosis is a disorder in which an osseous projection capped by cartilage develops on the metaphyses of long bones [1]; the lesion is present in the femoral proximal metaphysis in 25% of patients [2].
Occurs as two variants solitary and multiple exostosis (hereditary).

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