{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,17]],"date-time":"2026-01-17T20:34:24Z","timestamp":1768682064403,"version":"3.49.0"},"reference-count":12,"publisher":"BMJ","issue":"8","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Rep"],"accepted":{"date-parts":[[2021,7,16]]},"published-print":{"date-parts":[[2021,8]]},"abstract":"<jats:p>St\u00fcve-Wiedemann syndrome (SWS) is a rare, autosomal recessive disorder, causing dysautonomia and multisystem failure. Symptoms include skeletal malformations, restricted joint mobility and desensitisation to pain. Patients with SWS presenting with intraoral lesions are extremely rare and this is probably due to their shortened lifespan. We present a case of a 9-month-old patient who presented to our Oral and Maxillofacial Surgery (OMFS)Unit with a chronic inflamed ulcer affecting the tongue, secondary to trauma from erupting central incisors. We believe that depapillation in conjunction with an increased pain threshold contributed to its development. The patient was successfully treated by extraction of the lower central incisors and intralesional steroid injections under general anaesthetic. This case highlights that patients with SWS can present to the OMFS clinician with oral lesions and that they can be safely managed under general anaesthesia.<\/jats:p>","DOI":"10.1136\/bcr-2020-241530","type":"journal-article","created":{"date-parts":[[2021,8,3]],"date-time":"2021-08-03T11:50:25Z","timestamp":1627991425000},"page":"e241530","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":1,"title":["Oral ulceration in St\u00fcve-Wiedemann syndrome: a new presentation"],"prefix":"10.1136","volume":"14","author":[{"given":"Kiran","family":"Singh","sequence":"first","affiliation":[{"name":"Oral and Maxillofacial Surgery, University Hospitals Birmingham NHS Foundation Trust, Birmingham, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Khaled","family":"Borghol","sequence":"additional","affiliation":[{"name":"Oral and Maxillofacial Surgery, University Hospitals Birmingham NHS Foundation Trust, Birmingham, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rhodri","family":"Williams","sequence":"additional","affiliation":[{"name":"Oral and Maxillofacial Surgery, University Hospitals Birmingham NHS Foundation Trust, Birmingham, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kevin","family":"McMillan","sequence":"additional","affiliation":[{"name":"Oral and Maxillofacial Surgery, University Hospitals Birmingham NHS Foundation Trust, Birmingham, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2021,8,3]]},"reference":[{"key":"2025082802474818000_14.8.e241530.1","doi-asserted-by":"crossref","DOI":"10.1016\/S0140-6736(71)92666-3","article-title":"Congenital bowing of the long bones in two sisters","volume":"2","author":"St\u00fcve","year":"1971","journal-title":"Lancet"},{"key":"2025082802474818000_14.8.e241530.2","doi-asserted-by":"crossref","first-page":"776","DOI":"10.1007\/s002470050464","article-title":"Presentation of six cases of St\u00fcve-Wiedemann syndrome","volume":"28","author":"Cormier-Daire","year":"1998","journal-title":"Pediatr Radiol"},{"key":"2025082802474818000_14.8.e241530.3","doi-asserted-by":"crossref","first-page":"121","DOI":"10.1186\/1757-1626-1-121","article-title":"Congenital contractures and distinctive phenotypic features consistent with Stuve-Wiedmann syndrome in a male infant","volume":"1","author":"Al Kaissi","year":"2008","journal-title":"Cases J"},{"key":"2025082802474818000_14.8.e241530.4","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-9-34"},{"key":"2025082802474818000_14.8.e241530.5","doi-asserted-by":"crossref","first-page":"28","DOI":"10.1111\/prd.12265","article-title":"Oral mucosal changes associated with primary diseases in other body systems","volume":"80","author":"Elad","year":"2019","journal-title":"Periodontol 2000"},{"key":"2025082802474818000_14.8.e241530.6","doi-asserted-by":"crossref","DOI":"10.1016\/j.bjoms.2017.08.223","article-title":"A case report of recurring traumatic ulcerative granuloma with stromal eosinophilia (TUGSE) in a 6-year-old child","volume":"55","author":"Cheng","year":"2017","journal-title":"British Journal of Oral and Maxillofacial Surgery"},{"key":"2025082802474818000_14.8.e241530.7","doi-asserted-by":"crossref","first-page":"12","DOI":"10.1159\/000444729","article-title":"St\u00fcve-Wiedemann syndrome: update on clinical and genetic aspects","volume":"7","author":"Romeo Bertola","year":"2016","journal-title":"Mol Syndromol"},{"key":"2025082802474818000_14.8.e241530.8","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2009.01314.x"},{"key":"2025082802474818000_14.8.e241530.9","unstructured":"National Organization for Rare Disorders (NORD) . Stuve-Wiedemann Syndrome - NORD (National Organization for Rare Disorders) [Internet]. NORD (National Organization for Rare Disorders), 2020. Available: https:\/\/rarediseases.org\/rare-diseases\/stuve-wiedemann-syndrome\/ [Accessed 28 Nov 2020]."},{"key":"2025082802474818000_14.8.e241530.10","unstructured":"Genetic and Rare Diseases Information Center (GARD). Stuve-Wiedemann syndrome [Internet]. GARD (Genetic and Rare Diseases Information Center), 2020. Available: https:\/\/rarediseases.info.nih.gov\/diseases\/5045\/stuve-wiedemann-syndrome [Accessed 28 Nov 2020]."},{"key":"2025082802474818000_14.8.e241530.11","doi-asserted-by":"crossref","first-page":"880","DOI":"10.1302\/0301-620X.92B6.23486","article-title":"The orthopaedic manifestations and management of children with St\u00fcve-Wiedemann syndrome","volume":"92-B","author":"Hassan","year":"2010","journal-title":"J Bone Joint Surg Br"},{"key":"2025082802474818000_14.8.e241530.12","doi-asserted-by":"publisher","DOI":"10.1111\/j.1460-9592.2008.02891.x"}],"container-title":["BMJ Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/bcr-2020-241530","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,8,28]],"date-time":"2025-08-28T09:48:00Z","timestamp":1756374480000},"score":1,"resource":{"primary":{"URL":"https:\/\/casereports.bmj.com\/lookup\/doi\/10.1136\/bcr-2020-241530"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,8]]},"references-count":12,"journal-issue":{"issue":"8","published-online":{"date-parts":[[2021,8,3]]},"published-print":{"date-parts":[[2021,8]]}},"alternative-id":["10.1136\/bcr-2020-241530"],"URL":"https:\/\/doi.org\/10.1136\/bcr-2020-241530","relation":{},"ISSN":["1757-790X"],"issn-type":[{"value":"1757-790X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,8]]}}}