{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,27]],"date-time":"2026-10-27T14:38:36Z","timestamp":1793111916257,"version":"4.5.0"},"reference-count":0,"publisher":"Sultan Qaboos University","issue":"1","license":[{"start":{"date-parts":[[2026,2,3]],"date-time":"2026-02-03T00:00:00Z","timestamp":1770076800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nd\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Sultan Qaboos University Medical Journal"],"abstract":"<jats:p>KBG syndrome is a rare autosomal dominant disorder characterised by developmental delay, characteristic facial features, macrodontia and skeletal anomalies, caused by mutations in the ANKRD11 gene. We report a 5.5-year-old Moroccan boy who presented in 2022 to a tertiary military teaching hospital in Rabat, Morocco, with psychomotor delay, autistic traits, epilepsy, bilateral hearing loss with chronic otomastoiditis and radiologically-detected macrodontia before clinical eruption, in whom artificial intelligence-assisted facial phenotyping suggested the diagnosis, subsequently confirmed by identification of a novel nonsense mutation (c.1977C&gt;G; p.Tyr659Ter). Multidisciplinary management including antiepileptic therapy, speech therapy and audiological follow-up resulted in satisfactory seizure control and developmental progress.<\/jats:p>","DOI":"10.18295\/2075-0528.2963","type":"journal-article","created":{"date-parts":[[2026,2,4]],"date-time":"2026-02-04T20:01:27Z","timestamp":1770235287000},"page":"104-111","source":"Crossref","is-referenced-by-count":0,"title":["Novel &lt;i&gt;ANKRD11&lt;\/i&gt; Mutation in KBG Syndrome: &lt;i&gt;A diagnostic triad of hearing loss, radiological macrodontia and artificial intelligence-assisted facial phenotyping&lt;\/i&gt;"],"prefix":"10.18295","volume":"26","author":[{"given":"Azzeddine","family":"Laaraje","sequence":"first","affiliation":[{"name":"Department of Pediatrics, Mohammed V Military Teaching Hospital, Mohammed V University in Rabat, Rabat, Morocco"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Khadija Belcadi","family":"Abassi","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Rabat Children\u2019s Hospital, Rabat, Morocco"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mouna","family":"Lemaamer","sequence":"additional","affiliation":[{"name":"Laboratory of Human Pathologies, Mohammed V University in Rabat, Rabat, Morocco"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Abdelilah","family":"Radi","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Mohammed V Military Teaching Hospital, Mohammed V University in Rabat, Rabat, Morocco"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Amale","family":"Hassani","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Mohammed V Military Teaching Hospital, Mohammed V University in Rabat, Rabat, Morocco"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rachid","family":"Abilkassem","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Mohammed V Military Teaching Hospital, Mohammed V University in Rabat, Rabat, Morocco"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"7681","published-online":{"date-parts":[[2026,2,3]]},"container-title":["Sultan Qaboos University Medical Journal"],"original-title":[],"language":"en","deposited":{"date-parts":[[2026,10,27]],"date-time":"2026-10-27T14:21:51Z","timestamp":1793110911000},"score":1,"resource":{"primary":{"URL":"https:\/\/mjournal.squ.edu.om\/home\/vol26\/iss1\/16"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,2,3]]},"references-count":0,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2026,2,3]]}},"URL":"https:\/\/doi.org\/10.18295\/2075-0528.2963","relation":{},"ISSN":["2075-0528"],"issn-type":[{"value":"2075-0528","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,2,3]]}}}