{
    "abstract": "Camurati-Engelmann disease (CED; MIM\u00a0131300), or progressive diaphyseal dysplasia, is a rare autosomal dominant bone disease, which is caused by mutations in the transforming growth factor\u2011\u03b21 (TGF\u03b21) gene on chromosome\u00a019q13.1\u201113.3. Extremely variable penetrance has been reported to be associated with CED, the most common features of which are limb pain, waddling gait and muscle weakness. The present study reported on a consanguineous Chinese family with one affected individual that initially presented with exophthalmos, which has not previously been reported as an initial manifestation of CED. The proband was a 22-year-old woman that presented with progressive proptosis. Except for increased serum levels of alkaline phosphatase and C\u2011terminal telopeptide of type I collagen, no other biochemical abnormalities were detected. Whole\u2011body radiological and bone scintigraphic investigations revealed that hyperostosis and sclerosis predominantly affected the cranial bones, including the skull base, and only mildly affected the long bones. A heterozygous mutation involving a G to A transition at the cDNA position +653 of TGF\u03b21 was detected in the patient only, but not in her family members, by automated DNA sequencing using an ABI DNA sequencer (Model\u00a0377). Based on the clinical, biochemical, radiological and genetic findings, a diagnosis of CED was confirmed. Considering the phenotypic variability associated with CED and the unique manifestations of the patient described in the present study, CED should be taken into account regarding the differential diagnosis of exophthalmos.",
    "authors": [
        {
            "affiliation": "Department of Endocrinology, Key Laboratory of Endocrinology, Ministry of Health, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Beijing 100730, P.R. China.",
            "firstname": "Ruizhi",
            "initials": "R",
            "lastname": "Jiajue"
        },
        {
            "affiliation": "Department of Endocrinology, Key Laboratory of Endocrinology, Ministry of Health, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Beijing 100730, P.R. China.",
            "firstname": "Bo",
            "initials": "B",
            "lastname": "Wu"
        },
        {
            "affiliation": "Department of Endocrinology, Key Laboratory of Endocrinology, Ministry of Health, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Beijing 100730, P.R. China.",
            "firstname": "Yan",
            "initials": "Y",
            "lastname": "Jiang"
        },
        {
            "affiliation": "Department of Endocrinology, Key Laboratory of Endocrinology, Ministry of Health, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Beijing 100730, P.R. China.",
            "firstname": "Ou",
            "initials": "O",
            "lastname": "Wang"
        },
        {
            "affiliation": "Department of Endocrinology, Key Laboratory of Endocrinology, Ministry of Health, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Beijing 100730, P.R. China.",
            "firstname": "Mei",
            "initials": "M",
            "lastname": "Li"
        },
        {
            "affiliation": "Department of Endocrinology, Key Laboratory of Endocrinology, Ministry of Health, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Beijing 100730, P.R. China.",
            "firstname": "Xiaoping",
            "initials": "X",
            "lastname": "Xing"
        },
        {
            "affiliation": "Department of Endocrinology, Key Laboratory of Endocrinology, Ministry of Health, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Beijing 100730, P.R. China.",
            "firstname": "Weibo",
            "initials": "W",
            "lastname": "Xia"
        }
    ],
    "conclusions": null,
    "copyrights": null,
    "doi": "10.3892/mmr.2016.5548",
    "journal": "Molecular medicine reports",
    "keywords": [],
    "methods": null,
    "publication_date": "2016-08-04",
    "pubmed_id": "27484238",
    "results": null,
    "title": "Mild Camurati\u2011Engelamann disease presenting with exophthalmos as the first and only manifestation: A case report.",
    "xml": "<Element 'PubmedArticle' at 0x788506949da0>"
}