diaphyseal aclasis

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Related to diaphyseal aclasis: neurofibromatosis


pathologic continuity of structure, as in dyschondroplasia.
diaphyseal aclasis hereditary multiple exostoses.
Miller-Keane Encyclopedia and Dictionary of Medicine, Nursing, and Allied Health, Seventh Edition. © 2003 by Saunders, an imprint of Elsevier, Inc. All rights reserved.

exostoses, multiple, type 1

An autosomal dominant skeletal disorder (OMIM:133700) that primarily affects endochondral bone during growth, characterised by formation of numerous cartilage-capped, benign bone tumors (osteochondromas) and often accompanied by skeletal deformities and short stature. Rare cases undergo malignant transformation of osteochondromas to osteosarcoma or chondrosarcoma.

Molecular pathology
Caused by defects of EXT1, which encodes exostosin 1, a glycosyltransferase required for heparan sulfate synthesis.
Segen's Medical Dictionary. © 2012 Farlex, Inc. All rights reserved.