[
    {
        "id": "osp-13041",
        "type": "article-journal",
        "title": "Ellis van Creveld syndrome with unusual association of essential infantile esotropia",
        "author": [
            {
                "family": "Das",
                "given": "D"
            },
            {
                "family": "Das",
                "given": "G"
            },
            {
                "family": "Mahapatra",
                "given": "T K S"
            },
            {
                "family": "Biswas",
                "given": "J"
            }
        ],
        "URL": "https://omanscience.com/en/articles/ellis-van-creveld-syndrome-with-unusual-association-of-essential-infantile-esotropia",
        "language": "en",
        "issued": {
            "date-parts": [
                [
                    2010
                ]
            ]
        },
        "container-title": "Oman Journal of Ophthalmology",
        "volume": "3",
        "issue": "1",
        "page": "23-25",
        "DOI": "10.4103/0974-620x.60017",
        "publisher": "Medknow Publications",
        "ISSN": "0974-620X",
        "abstract": "Ellis-van Creveld syndrome is a rare short-limbed disproportionate dwarfism characterized by postaxial polydactyly, several skeletal, oral mucosal and dental anomalies, nail dysplasia and in 50-60% cases of congenital cardiac defects. It is an autosomal recessive disorder with mutations of the EVC1 and EVC2 genes located on chromosome 4p16. Patients with this syndrome usually have a high mortality in early life due to cardiorespiratory problems. We present the case of a six- month-old female infant with Ellis-van Creveld syndrome - essential infantile esotropia, which has been infrequently documented in the literature."
    }
]