Abstract
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.
Publication Date
2-3-2026
First Page
104
Last Page
111
Creative Commons License
This work is licensed under a Creative Commons Attribution 4.0 International License.
Recommended Citation
Laaraje, Azzeddine; Abassi, Khadija Belcadi; Lemaamer, Mouna; Radi, Abdelilah; Hassani, Amale; and Abilkassem, Rachid
(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: Vol. 26: 104-111.
DOI: https://doi.org/10.18295/2075-0528.2963
