{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,3]],"date-time":"2026-04-03T05:21:52Z","timestamp":1775193712063,"version":"3.50.1"},"reference-count":39,"publisher":"American Academy of Pediatrics (AAP)","issue":"1","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2019,7,1]]},"abstract":"<jats:p>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\u2019 duration (without uveitis), developmental delay, microcephaly, and dysmorphic features reminiscent of NBS. Sanger sequencing of the SMARCA2 gene revealed no mutations. Laboratory test results were normal. With synovial biopsy, we confirmed a chronic inflammatory synovitis. Brain MRI revealed dysgenesis of the corpus callosum. Treatment with methotrexate and, subsequently, etanercept led to significant clinical improvement. Whole-exome sequencing revealed a de novo heterozygous nonsense mutation in the ARID1B gene, resulting in a premature stop codon (c.C5404T; p.R1802\u00d7), a genotype consistent with CSS. The absence of significantly raised inflammatory markers and a clinical diagnosis of a genetic syndrome associated with noninflammatory joint changes may have contributed to this patient\u2019s polyarthritis being missed for several years. We propose that some patients with CSS may have inflammatory arthritis (with or without coexisting skeletal dysplasia), which may be helped by treatment as described herein. Early recognition and treatment of inflammatory arthritis in CSS would have a significant impact on reducing disease burden and improving quality of life for patients with this rare genetic syndrome.<\/jats:p>","DOI":"10.1542\/peds.2018-1741","type":"journal-article","created":{"date-parts":[[2019,6,26]],"date-time":"2019-06-26T12:25:18Z","timestamp":1561551918000},"source":"Crossref","is-referenced-by-count":4,"title":["Inflammatory Arthritis as a Possible Feature of Coffin-Siris Syndrome"],"prefix":"10.1542","volume":"144","author":[{"given":"Sonia","family":"Melo Gomes","sequence":"first","affiliation":[{"name":"Department of Infection, Immunity, and Rheumatology - Infection, Immunity and Inflammation Programme, University College London Great Ormond Street Institute of Child Health, London, United Kingdom; Departments of"},{"name":"Rheumatology,"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cristina","family":"Dias","sequence":"additional","affiliation":[{"name":"Clinical Genetics, and"},{"name":"Department of Medical and Molecular Genetics, School of Basic and Medical Biosciences, King\u2019s College London, London, United Kingdom; and"},{"name":"The Francis Crick Institute, London, United Kingdom"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ebun","family":"Omoyinmi","sequence":"additional","affiliation":[{"name":"Department of Infection, Immunity, and Rheumatology - Infection, Immunity and Inflammation Programme, University College London Great Ormond Street Institute of Child Health, London, United Kingdom; Departments of"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sandrine","family":"Compeyrot-Lacassagne","sequence":"additional","affiliation":[{"name":"Rheumatology,"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nigel","family":"Klein","sequence":"additional","affiliation":[{"name":"Department of Infection, Immunity, and Rheumatology - Infection, Immunity and Inflammation Programme, University College London Great Ormond Street Institute of Child Health, London, United Kingdom; Departments of"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Neil J.","family":"Sebire","sequence":"additional","affiliation":[{"name":"Histopathology, Great Ormond Street Hospital, London, United Kingdom;"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Paul","family":"Brogan","sequence":"additional","affiliation":[{"name":"Department of Infection, Immunity, and Rheumatology - Infection, Immunity and Inflammation Programme, University College London Great Ormond Street Institute of Child Health, London, United Kingdom; 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