Camurati-Engelmann disease. Genetics and clinical manifestations with a review of the literature.
نویسندگان
چکیده
منابع مشابه
Camurati–Engelmann disease-a rare cause of tetany identified on bone scintigraphy
RATIONALE Camurati-Engelmann disease (i.e., progressive diaphyseal dysplasia) is an extremely rare autosomal dominant bone disorder. The most common clinical manifestations were chronic skeletal pain, waddling gait, muscular weakness. PATIENT CONCERNS We described that a 27-year-old male with a 1-year history of intermittent tetany was referred for bone scintigraphy. The whole body bone scan ...
متن کاملLocalisation of the gene causing diaphyseal dysplasia Camurati-Engelmann to chromosome 19q13.
Camurati-Engelmann disease, progressive diaphyseal dysplasia, or diaphyseal dysplasia Camurati-Engelmann is a rare, autosomal dominantly inherited bone disease, characterised by progressive cortical expansion and sclerosis mainly affecting the diaphyses of the long bones associated with cranial hyperostosis. The main clinical features are severe pain in the legs, muscular weakness, and a waddli...
متن کاملAngioid streaks in a case of Camurati–Engelmann disease
Camurati-Engelmann disease (CED) is a rare autosomal dominant disease with various phenotypic expressions. The hallmark of the disease is bilateral symmetric diaphyseal hyperostosis of the long bones with progressive involvement of the metaphysis. Ocular manifestations occur rarely and mainly result from bony overgrowth of the orbit and optic canal stenosis. We report a case of CED showing angi...
متن کاملSkull base manifestations of Camurati-Engelmann disease.
OBJECTIVE To describe presenting symptoms, evaluation findings, and surgical management of cranial base hyperostosis in patients with Camurati-Engelmann disease (CED). DESIGN Retrospective study and literature review. SETTING The Mayo Clinic, Rochester, Minnesota. PATIENTS A total of 306 patients diagnosed as having CED, including 12 primarily evaluated at our institution between 1968 and...
متن کاملUnusual association between enchondroma and Camurati-Engelmann disease: A case report
This case report describes an enchondroma of the distal phalanx of the right little finger in a 37-year-old woman with Camurati-Engelmann disease. Curettage of the tumor and artificial bone grafting were performed in May 2004. Surgical treatment resulted in a good clinical outcome with no evidence of recurrence at 5-year follow-up. The genetic relationships between Camurati-Engelmann disease an...
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عنوان ژورنال:
- Journal of medical genetics
دوره 9 1 شماره
صفحات -
تاریخ انتشار 1972