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A waddling gait (48%), easy fatigability (44%), and muscle weakness (39%) were other important features. Radiological symptoms were not fully penetrant, with 94% of the patients showing the typical long bone involvement. A large percentage of the patients also showed involvement of the skull (54%) and pelvis (63%). The review provides an overview of possible treatments, diagnostic guidelines, and considerations for prenatal testing. The detailed description of such a large set of CED patients will be of value in establishing the correct diagnosis, genetic counselling, and treatment.<\/jats:p>","DOI":"10.1136\/jmg.2005.033522","type":"journal-article","created":{"date-parts":[[2005,5,13]],"date-time":"2005-05-13T20:25:14Z","timestamp":1116015914000},"page":"1-11","source":"Crossref","is-referenced-by-count":199,"title":["Camurati-Engelmann disease: review of the clinical, radiological, and molecular data of 24 families and implications for diagnosis and 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