Research article Open access
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, wi …