Oculofaciocardiodental syndrome is caused by variants in the BCL6 corepressor (BCOR) gene. We identified a novel heterozygous frameshift variant, NM_001123385.2(BCOR):c.2326del, that arose de novo in a Japanese girl with characteristic facial features, congenital heart disease, bilateral syndactyly of toes 2 and 3, congenital cataracts, dental abnormalities, and mild intellectual disability. Reports of BCOR variants are rare, and further case accumulation is warranted.

Spinal lesions in upper and sublaxilar cervical vertebrae were studied radiologically in 263 patients (25 men and 238 women) with rheumatoid arthritis (RA). Their average age was 58.9 years, and their disease duration was ranged from 6 months to 24 years (mean 13 years). Functional lateral views of the cervical spine were made. Atlantaxial subluxation (AAS) and vertical subluxation (VS) were evaluated as upper cervical lesions. Subaxilar subluxation (SAS) and endplate erosion were evaluated as subaxilar cervical lesions. One hundred and seventy-eight (67.7%) of the patients had a cervical lesion. Upper and subaxilar cervical abnormalities were recognized in 136 (51.7%) and 113 (43.0%) patients, respectively. There was no linkage between upper and subaxilar cervical lesions. While the prevalence of these lesions increased with time, the frequency was found to be over 50% within only 5 years from onset in patients with mutilating deformity. This prevalence tended to be associated with disease activity.