학술논문
Skeletal Dysplasia Presenting as a Neuromuscular Disorder - Report of a Family with Camurati-Engelmann Syndrome.
Document Type
Case Study
Author
Source
Subject
*SKELETAL dysplasia
*NEUROMUSCULAR diseases
*EXOSTOSIS
*COMPUTED tomography
*CELL proliferation
*CELL differentiation
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Language
ISSN
1841-9038
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. [ABSTRACT FROM AUTHOR]