[
    {
        "id": "osp-12534",
        "type": "article-journal",
        "title": "Waardenburg syndrome: A rare case",
        "author": [
            {
                "family": "Rawlani",
                "given": "Shivlal M"
            },
            {
                "family": "Ramtake",
                "given": "Roshani"
            },
            {
                "family": "Dhabarde",
                "given": "Ajab"
            },
            {
                "family": "Rawlani",
                "given": "Sudhir S"
            }
        ],
        "URL": "https://omanscience.com/en/articles/waardenburg-syndrome-a-rare-case",
        "language": "en",
        "issued": {
            "date-parts": [
                [
                    2018
                ]
            ]
        },
        "container-title": "Oman Journal of Ophthalmology",
        "volume": "11",
        "issue": "2",
        "page": "158-160",
        "DOI": "10.4103/ojo.ojo_51_2014",
        "publisher": "Medknow Publications",
        "ISSN": "0974-620X",
        "abstract": "Waardenburg Syndrome is a rare disorder of neural crest cell development. It is genetically inherited. Varying in prevalence from 1:42000 to 1:50,000, it compromises approximately 2-5% of congenital deaf children. The syndrome is not expressed in its complete form, in about 20% cases, which adds for its heterogenisity . Even among people affected in the same family,the features do vary. Unilateral heterochromia that manifests as lighter pigmentation of one iris is associated with Waardenburg syndrome and Parry-Romberg syndrome and less commonly with Hirschsprung disease. A case of ten yrs. old boy with a typical facial profile and hearing loss is reported."
    }
]