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hereditary multiple exostoses

 

Definition: 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.

Synonym(s): hereditary deforming chondrodystrophy1, multiple exostosis, osteochondromatosis

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© Copyright 2017 Wolters Kluwer. All Rights Reserved. Review Date: Sep 19, 2016.
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