{
    "abstract": "Camurati-Engelmann disease (CED) is characterized by hyperostosis of the long bones and the skull, proximal muscle weakness, limb pain, a wide-based, waddling gait, and joint contractures. Facial features such as macrocephaly, frontal bossing, enlargement of the mandible, proptosis, and cranial nerve impingement resulting in facial palsy are seen in severely affected individuals later in life.\nThe diagnosis of CED is established in a proband with the characteristic radiographic findings or (if radiographic findings are inconclusive) a heterozygous pathogenic variant in \nCED is inherited in an autosomal dominant manner. Many individuals diagnosed with CED have an affected parent; some individuals diagnosed with CED may have the disorder as the result of a ",
    "authors": [
        {
            "collective": null,
            "firstname": "Margaret P",
            "initials": "MP",
            "lastname": "Adam"
        },
        {
            "collective": null,
            "firstname": "Jerry",
            "initials": "J",
            "lastname": "Feldman"
        },
        {
            "collective": null,
            "firstname": "Ghayda M",
            "initials": "GM",
            "lastname": "Mirzaa"
        },
        {
            "collective": null,
            "firstname": "Roberta A",
            "initials": "RA",
            "lastname": "Pagon"
        },
        {
            "collective": null,
            "firstname": "Stephanie E",
            "initials": "SE",
            "lastname": "Wallace"
        },
        {
            "collective": null,
            "firstname": "Anne",
            "initials": "A",
            "lastname": "Amemiya"
        },
        {
            "collective": null,
            "firstname": "Stephanie E",
            "initials": "SE",
            "lastname": "Wallace"
        },
        {
            "collective": null,
            "firstname": "William R",
            "initials": "WR",
            "lastname": "Wilcox"
        }
    ],
    "copyrights": "Copyright \u00a9 1993-2025, University of Washington, Seattle. GeneReviews is a registered trademark of the University of Washington, Seattle. All rights reserved.",
    "doi": null,
    "isbn": null,
    "language": "eng",
    "publication_date": "1993",
    "publication_type": "Review",
    "publisher": "University of Washington, Seattle",
    "publisher_location": "Seattle (WA)",
    "pubmed_id": "31293304\n36131584\n35415233\n30756048\n25140400\n29230158\n10457303\n11810278\n20566907\n15660289\n36325441\n29452301\n32258971\n35784539\n35415221\n10685567\n14850520\n11260231\n36436818\n28842728\n35834113\n30690794\n11452173\n11062463\n12493741\n15894597\n21221996\n29620655\n15103729\n10973241\n36880809\n34490910\n36339419\n4461085\n10748417\n29184006\n30034812\n19943817\n36519831\n18869144\n21478664\n33164853\n26286906\n26656846\n25741868\n34351871\n11278244\n25099136\n22044122\n36779427\n30721323\n4057207\n15326622\n20308061\n28137547\n36130541\n33555353\n28261436\n20301335",
    "sections": [
        {
            "chapter": null,
            "title": "Summary"
        },
        {
            "chapter": null,
            "title": ""
        },
        {
            "chapter": null,
            "title": "Diagnosis"
        },
        {
            "chapter": null,
            "title": "Clinical Characteristics"
        },
        {
            "chapter": null,
            "title": "Genetically Related (Allelic) Disorders"
        },
        {
            "chapter": null,
            "title": "Differential Diagnosis"
        },
        {
            "chapter": null,
            "title": "Management"
        },
        {
            "chapter": null,
            "title": "Genetic Counseling"
        },
        {
            "chapter": null,
            "title": "Resources"
        },
        {
            "chapter": null,
            "title": "Molecular Genetics"
        },
        {
            "chapter": null,
            "title": "Chapter Notes"
        },
        {
            "chapter": null,
            "title": "References"
        }
    ],
    "title": "GeneReviews"
}