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MÆDICA - a Journal of Clinical Medicine | Vol. 10, nr. 1, 2015

ISSN 1841-9038  |  e-ISSN 2069-6116
ISSN-L 1841-9038
CNCSIS - CMR - B+

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

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ABSTRACT

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.

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Vasilica PLAIASU