Novel ANKRD11 Mutation in KBG Syndrome: A diagnostic triad of hearing loss, radiological macrodontia and artificial intelligence-assisted facial phenotyping

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.