الملخص
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>G; p.Tyr659Ter). Multidisciplinary management including antiepileptic therapy, speech therapy and audiological follow-up resulted in satisfactory seizure control and developmental progress.
بيانات النشر
- المعرّف الرقمي
- 10.18295/2075-0528.2963
- المجلة
- مجلة جامعة السلطان قابوس الطبية, 26(1), 104-111
- الناشر
- جامعة السلطان قابوس
- وصول مفتوح
- وصول مفتوح ذهبي
- الترخيص
- CC BY-ND 4.0
اقتبس هذه المقالة
APA 7
Laaraje, A., Abassi, K. B., Lemaamer, M., Radi, A., Hassani, A., & Abilkassem, R. (2026). Novel ANKRD11 Mutation in KBG Syndrome: A diagnostic triad of hearing loss, radiological macrodontia and artificial intelligence-assisted facial phenotyping. Sultan Qaboos University Medical Journal, 26(1), 104-111. https://doi.org/10.18295/2075-0528.2963
MLA 9
Laaraje, Azzeddine, et al. "Novel ANKRD11 Mutation in KBG Syndrome: A diagnostic triad of hearing loss, radiological macrodontia and artificial intelligence-assisted facial phenotyping." Sultan Qaboos University Medical Journal, vol. 26, no. 1, 2026, pp. 104-111. https://doi.org/10.18295/2075-0528.2963.
شيكاغو (المؤلف–التاريخ)
Laaraje, Azzeddine, Khadija Belcadi Abassi, Mouna Lemaamer, Abdelilah Radi, Amale Hassani, and Rachid Abilkassem. 2026. "Novel ANKRD11 Mutation in KBG Syndrome: A diagnostic triad of hearing loss, radiological macrodontia and artificial intelligence-assisted facial phenotyping." Sultan Qaboos University Medical Journal 26 (1): 104-111. https://doi.org/10.18295/2075-0528.2963.
هارفارد
Laaraje, A., Abassi, K. B., Lemaamer, M., Radi, A., Hassani, A. and Abilkassem, R. (2026) 'Novel ANKRD11 Mutation in KBG Syndrome: A diagnostic triad of hearing loss, radiological macrodontia and artificial intelligence-assisted facial phenotyping', Sultan Qaboos University Medical Journal, 26(1), pp. 104-111. doi:10.18295/2075-0528.2963.
فانكوفر
Laaraje A, Abassi KB, Lemaamer M, Radi A, Hassani A, Abilkassem R. Novel ANKRD11 Mutation in KBG Syndrome: A diagnostic triad of hearing loss, radiological macrodontia and artificial intelligence-assisted facial phenotyping. Sultan Qaboos University Medical Journal. 2026;26(1):104-111. doi:10.18295/2075-0528.2963
IEEE
A. Laaraje, K. B. Abassi, M. Lemaamer, A. Radi, A. Hassani, and R. Abilkassem, "Novel ANKRD11 Mutation in KBG Syndrome: A diagnostic triad of hearing loss, radiological macrodontia and artificial intelligence-assisted facial phenotyping," Sultan Qaboos University Medical Journal, vol. 26, no. 1, pp. 104-111, 2026, doi: 10.18295/2075-0528.2963.