An unusual form of spondyloepiphyseal dysplasia with advanced carpal and spinal end-plate ossification mimicking comp-mutation-like multiple epiphyseal dysplasia.

We present a child with irregular ossification of
tubular bone epiphyses, short bones, and spine. The
radiographic evolution of bones undergoing endochondral
ossification was followed from the age of 1 year 9 months to
6 years. The unusual features demonstrated in this child
made classification difficult: pseudoachondroplasia was
excluded because no mutations of the COMP gene were
found. Considering the evolution of the radiographic
appearances, the most likely diagnosis would seem to be
an unusual form of spondyloepiphyseal dysplasia, mimicking
some aspects of multiple epiphyseal dysplasia. Endochondral
ossification was diffusely altered with a mixture of
epiphyseal ossification delay associated with acceleration
and early fusion. This case was a unique presentation within
the family, suggesting a mutation in the affected child.