Regarding Camurati-Engelmann Disease: To the Editor

نویسندگان

  • Melissa Machado Viana
  • Sabrina Versuti Nunes
  • Davi Coutinho F. Fernandes Gomes
  • Marco Antônio Percope de Andrade
  • Marcos José Burle de Aguiar
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Unusual association between enchondroma and Camurati-Engelmann disease: A case report

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Skeletal Dysplasia Presenting as a Neuromuscular Disorder - Report of a Family with Camurati-Engelmann Syndrome.

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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 ...

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Angioid 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...

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Localisation 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...

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عنوان ژورنال:

دوره 10  شماره 

صفحات  -

تاریخ انتشار 2018