title: 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.
authors.affiliation: Department of Genetics, "Prof. Alfred Rusescu" Mother and Child's Care Institute IOMC, Bucharest, Romania.
authors.forename: Vasilica
authors.initials: V
authors.lastname: Plaiasu
authors.affiliation: Department of Genetics, "Prof. Alfred Rusescu" Mother and Child's Care Institute IOMC, Bucharest, Romania.
authors.forename: Amalia
authors.initials: A
authors.lastname: Costin
keywords: Camurati-Engelmann disease; TGFB1 gene mutation; skeletal dysplasia