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Article

Mild Camurati‑Engelamann disease presenting with exophthalmos as the first and only manifestation: A case report.

Molecular medicine reports - 1 Sept 2016

Jiajue Ruizhi, Wu Bo, Jiang Yan, Wang Ou, Li Mei, Xing Xiaoping, Xia Weibo

Abstract excerpt

Camurati-Engelmann disease (CED; MIM 131300), or progressive diaphyseal dysplasia, is a rare autosomal dominant bone disease, which is caused by mutations in the transforming growth factor‑β1 (TGFβ1) gene on chromosome 19q13.1‑13.3. 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...

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PMID: 27484238
DOI: 10.3892/mmr.2016.5548

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