title: Dysspondyloenchondromatosis (DSC) associated with COL2A1 mutation: Clinical and radiological overlap with spondyloepimetaphyseal dysplasia-Strudwick type (SEMD-S).
abstract: 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.
authors.affiliation: North West Thames Regional Genetics Service, London North West Healthcare NHS Trust, Harrow, UK.
authors.forename: Blair
authors.initials: B
authors.lastname: Merrick
authors.affiliation: Department of Radiology, Great Ormond Street Hospital, London, UK.
authors.forename: Alistair
authors.initials: A
authors.lastname: Calder
authors.affiliation: North West Thames Regional Genetics Service, London North West Healthcare NHS Trust, Harrow, UK.
authors.forename: Emma
authors.initials: E
authors.lastname: Wakeling
mesh_terms: D024043:Collagen Type II / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D009139:Musculoskeletal Abnormalities / Q000000981:diagnostic imaging / Q000235:genetics* / Q000473:pathology; D009154:Mutation / Q000235:genetics*; D010009:Osteochondrodysplasias / Q000000981:diagnostic imaging / Q000235:genetics* / Q000473:pathology; D011379:Prognosis; D014057:Tomography, X-Ray Computed
chemical_list: C499177:COL2A1 protein, human; D024043:Collagen Type II
keywords: COL2A1; DSC; SEMD; Strudwick; dysspondyloenchondromatosis; spondyloepimetaphyseal dysplasia; type II collagenopathy