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Article in English | IMSEAR | ID: sea-182363

ABSTRACT

Camurati-Engelmann disease (CED) is a very rare autosomal dominant genetic disorder that causes characteristic anomalies in the skeleton. It is a connective tissue disorder known for marked variability of its clinical presentation. The authors report CED in a 25-year-old male with atypical involvement of metacarpals (acrosclerosis) and features of neuromuscular disease along with the classical features of the disease.

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