Camurati-Engelmann Disease.
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Date
2013-07
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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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Keywords
Camurati-Engelmann disease, connective tissue disorder, progressive diaphyseal dysplasia, autosomal dominant inheritance, muscle wasting, waddling-gait
Citation
Jadhav Atul, Ghanekar Jaishree. Camurati-Engelmann Disease. Indian Journal of Clinical Practice. 2013 July; 24(2): 171-174.