Unusual association between enchondroma and Camurati-Engelmann disease: A case report

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

We report the case of a 28-year-old female with progressive diaphyseal dysplasia, who presented with history of a similar neuromuscular condition. Clinical, radiological and molecular data confirmed Camurati-Engelmann Disease (CED). This is the first Romanian family who was diagnosed with CED.

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...

Camurati-Engelmann Disease Association With Hypogonadism and Primary Hypothyroidism

INTRODUCTION Camurati-Engelmann disease (CED) is a rare autosomal dominant disease with various phenotypic expressions. The symptoms usually develop during childhood. The hallmark of the disease is bilateral symmetric diaphyseal hyperostosis of the long bones with progressive involvement of the metaphysis. The epiphysis is strictly spared. The common clinical symptoms are pain of the extremitie...

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 ...

Regarding Camurati-Engelmann Disease: To the Editor