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

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.

SUBMITTER: Plaiasu V 

PROVIDER: S-EPMC4496766 | biostudies-literature | 2015 Mar

REPOSITORIES: biostudies-literature