Dear Editor, Spondylo‐epi‐metaphyseal dysplasias (SEMDs) are a heterogeneous group of disorders with differing modes of inheritance, all of which are defined by the combination of vertebral, epiphyseal and metaphyseal abnormalities. The specific diagnosis is based on the specificity of the skeletal manifestations or the presence of characteristic extraskeletal features. Dyggve‐Melchior‐Clausen syndrome (DMC) and Smith‐McCort dysplasia (SMC) are rare autosomal recessive SEMDs. SMC (OMIM: 607326), which is a rare variant of DMC syndrome without evidence of mental retardation, has been shown to be allelic to DMC syndrome. Smith‐McCort dysplasia is a progressive, autosomal‐recessive SEMD that may be misdiagnosed in clinical practice as juvenile idiopathic arthritis (JIA). The clinical importance of this rare disorder may be attributed to its clinical similarity to JIA, which has a very different prognosis and treatment regimen. Typical dysplastic skeletal abnormalities, which occur mainly in the spine and iliac bones, and the absence of synovial inflammation enable the differential diagnosis of SMC from JIA. We present the case of a 14‐year‐old girl with SMC who was misdiagnosed as having JIA. A 14‐year‐old girl was admitted to our hospital with pain in the bilateral hip and leg that had hindered her normal walking for 3 months.
International Journal of Rheumatic Diseases – Wiley
Published: Jun 1, 2012
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