[
    {
        "id": "osp-9890",
        "type": "article-journal",
        "title": "Novel ANKRD11 Mutation in KBG Syndrome: A diagnostic triad of hearing loss, radiological macrodontia and artificial intelligence-assisted facial phenotyping",
        "author": [
            {
                "family": "Laaraje",
                "given": "Azzeddine"
            },
            {
                "family": "Abassi",
                "given": "Khadija Belcadi"
            },
            {
                "family": "Lemaamer",
                "given": "Mouna"
            },
            {
                "family": "Radi",
                "given": "Abdelilah"
            },
            {
                "family": "Hassani",
                "given": "Amale"
            },
            {
                "family": "Abilkassem",
                "given": "Rachid"
            }
        ],
        "URL": "https://omanscience.com/en/articles/novel-ankrd11-mutation-in-kbg-syndrome-a-diagnostic-triad-of-hearing-loss-radiological-macrodontia-and-artificial-intelligence-assisted-facial-phenoty",
        "language": "en",
        "issued": {
            "date-parts": [
                [
                    2026
                ]
            ]
        },
        "container-title": "Sultan Qaboos University Medical Journal",
        "volume": "26",
        "issue": "1",
        "page": "104-111",
        "DOI": "10.18295/2075-0528.2963",
        "publisher": "Sultan Qaboos University",
        "ISSN": "2075-051X",
        "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."
    }
]