Distinctive new form of spondyloepimetaphyseal dysplasia with severe metaphyseal changes similar to Jansen metaphyseal chondrodysplasia

Australas Radiol. 2005 Feb;49(1):57-62. doi: 10.1111/j.1440-1673.2005.01395.x.


We report a boy with a unique, "new" form of spondyloepimetaphyseal dysplasia. The conspicuous features of the spinal changes were the delay in ossification of the cervical spine and posterior elements of the thoraco-lumbar spine. The vertebral bodies were of abnormal shape but of normal size and well ossified. The hallmark of epiphyseal changes was markedly delayed ossification (bone age). The severely disturbed metaphyseal ossification was similar to Jansen metaphyseal dysplasia. This pattern of changes has not yet been described in spondyloepimetaphyseal dysplasia.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple
  • Diagnosis, Differential
  • Humans
  • Infant, Newborn
  • Male
  • Osteochondrodysplasias / classification
  • Osteochondrodysplasias / diagnostic imaging*
  • Radiography