An update on the imaging of diaphyseal aclasis

Skeletal Radiol. 2021 Oct;50(10):1941-1962. doi: 10.1007/s00256-021-03770-3. Epub 2021 Apr 1.


Solitary osteochondromas are common, benign hyaline cartilage-capped exostoses that primarily arise from the metaphyses of long and flat bones. Diaphyseal aclasis is an autosomal dominant condition resulting from EXT1 or EXT2 gene mutations and is characterized by multifocal osteochondromas. These can result in a wide spectrum of complications, such as skeletal deformity, neurological and vascular complications, adventitial bursa formation, fracture, and rarely malignant transformation to peripheral chondrosarcoma. In this review, we outline in detail the multimodality imaging features of DA and its associated complications.

Keywords: Diaphyseal aclasis; Exostosis; Osteochondroma.

Publication types

  • Review

MeSH terms

  • Bone Neoplasms*
  • Chondrosarcoma*
  • Diagnostic Imaging
  • Exostoses, Multiple Hereditary*
  • Humans
  • Mutation
  • Osteochondroma*