Dysspondyloenchondromatosis (DSC) is a rare skeletal dysplasia characterized by enchondroma-like lesions and anisospondyly. The former leads to discrepancies in limb length, and the latter, to progressive kyphoscoliosis. Two recent cases have highlighted the genetic heterogeneity of DSC, one demonstrating the presence and, the other, the absence of a COL2A1 mutation. This may have important clinical implications, for example, screening for complications including atlanto-axial instability associated with type II collagenopathies, as well as long-term patient management. We report on a case with radiographic features of DSC with overlap into the type II collagenopathy spondyloepimetaphyseal dysplasia, Strudwick type, who was found to carry a novel heterozygous mutation in the COL2A1 gene. Testing for COL2A1 mutations should be performed in all patients with radiological features of DSC. Further research is needed to identify the underlying molecular cause in cases where no COL2A1 mutation is identified.
Keywords: COL2A1; DSC; SEMD; Strudwick; dysspondyloenchondromatosis; spondyloepimetaphyseal dysplasia; type II collagenopathy.
© 2015 Wiley Periodicals, Inc.