MRI findings in Dyggve‐Melchior‐Clausen syndrome, a rare spondyloepiphyseal dysplasia

Abstract

We present the case of an 8-year-old female patient with bone dysplasia as part of Dyggve-Melchior-Clausen syndrome (DMCS). MRI was used to evaluate the case. In the spine, odontoid apophysis aplasia was found with no ossification nucleus, vertebrae with central hump, disk protrusions, hypertrophy of the posterior common vertebral ligament, and hidden spina bifida at the S4 level. Morphological anomalies were found in the hips both in the proximal femoral epiphysis, which was located excentrically and laterally to the femoral neck, and in the Y-cartilage, which was greatly enlarged. In the knees, anterior crossed ligaments were not seen, although there were some indirect signs that indicated congenital absence, including hypoplasia of the femoral trochlea and the intercondylar notch. There was bilateral medial patellar plicae and asymmetry in the height of the distal femoral and proximal tibial physes, as well as dysplasia of the facets of the patella. In comparison with radiography, MRI provides a much clearer definition of the aspects of bone dysplasia that are related to DMCS, including morphological changes in the soft tissue and cartilage of the spine, hips, and knees. MRI can enhance our understanding of the pathogenesis and evolution of deformities.