hereditary multiple exostoses


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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 ?
Capanna, "Hereditary multiple exostoses: a review of clinical appearance and metabolic pattern," Clinical Cases in Mineral and Bone Metabolism, vol.
Health-related Quality of Life in People with Hereditary Multiple Exostoses. J Pediatr Orthop 2012;32:210-214.
Duncan, "Etiological point mutations in the hereditary multiple exostoses gene EXT1: a functional analysis of heparan sulfate polymerase activity," American Journal of Human Genetics, vol.
Loveless, "Acetabular dysplasia associated with hereditary multiple exostoses: a case report," The Journal of Bone and Joint Surgery.
Hosney, "The hip in hereditary multiple exostoses," The Journal of Bone and Joint Surgery.
Genotype-phenotype correlation in hereditary multiple exostoses. J Med Genet 2001;38:430-4.
Natural history study of hereditary multiple exostoses. Am J Med Genet 1995; 55:43-6.
Hosney, "The hip in hereditary multiple exostoses," The Journal of Bone & Joint Surgery--British Volume, vol.
His achievements are all the more remarkable as he suffers from a bone condition called Hereditary Multiple Exostoses (HME), which affects only around 1,000 people in Britain.
Osteochondroma occurs frequently as a solitary osteocartilaginous exostosis and rarely as hereditary multiple lesions (Hereditary Multiple Exostoses, HME) [7, 8].
Now 42, the Walkergate mum-of-three has lived with the debilitating bone disorder Hereditary Multiple Exostoses since she was a baby.

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