Inflammatory arthritis as a possible feature of coffin-siris syndrome
S Melo Gomes, C Dias, E Omoyinmi… - …, 2019 - publications.aap.org
Coffin-Siris syndrome (CSS) and Nicolaides-Baraitser syndrome (NBS) are 2 overlapping
syndromes caused by mutations in genes of the BRG1/BRM-associated factor chromatin-
remodeling complex, presenting with multiple malformations and intellectual disability.
Musculoskeletal changes such as noninflammatory prominence of interphalangeal joints in
hands, feet, and, to a lesser extent, knee joints are common in NBS (up to 85%) and also
reported in CSS. We present the case of a 7-year-old boy with polyarthritis of several years' …
syndromes caused by mutations in genes of the BRG1/BRM-associated factor chromatin-
remodeling complex, presenting with multiple malformations and intellectual disability.
Musculoskeletal changes such as noninflammatory prominence of interphalangeal joints in
hands, feet, and, to a lesser extent, knee joints are common in NBS (up to 85%) and also
reported in CSS. We present the case of a 7-year-old boy with polyarthritis of several years' …