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.

Dyggve–Melchior–Clausen syndrome: Clinical, genetic, and radiological study of 15 Egyptian patients from nine unrelated families

“…Other reported signs in the pelvis and hip joint are small ilium with diminished vertical height, wide irregular sacroiliac joint, small sacroiliac notch, hypoplastic acetabulum, delayed hypoplastic deformed femoral head and neck, femoral neck beaked medially, bilateral dislocation of the hip joint, and wide symphysis pubis [3]. Carbonell et al [17] used magnetic resonance imaging (MRI) to evaluate DMC cases and concluded that MRI provides a much clearer definition of the aspects of bone dysplasia that are related to the syndrome, including morphologic changes in the soft tissue and cartilage of spine, hips, and knees.…”

Clinical, radiological and molecular studies in 24 individuals with Dyggve-Melchior-Clausen dysplasia and Smith-McCort dysplasia from India

“…Neuroimaging of the brain and spine done in five individuals aged between 3 and 16 years showed no evidence of white matter changes or atlantoaxial instability. Reports suggest that atlantoaxial instability if identified early can be stabilised by surgery 31–33. The oldest patients in our cohort (16 and 22 years) were non-ambulatory due to extreme genua valga and multiple joint restrictions.…”

Dyggve–Melchior–Clausen syndrome: novel splice mutation with atlanto-axial subluxation

“…Including our patients, odontoid hypoplasia has been described in 12 patients with DMC syndrome (12% of all patients with DMC). Six patients exhibited no neurological symptoms, including our patients [1,8,19]. One patient, a 17-year-old NC P1 P2 CARRIERS Fig.…”