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

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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Detaylı Bibliyografya
Yayımlandı:Maedica (Bucur)
Asıl Yazarlar: PLAIASU, Vasilica, COSTIN, Amalia
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: Media Med Publicis 2015
Konular:
Case Reports
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC4496766/
https://ncbi.nlm.nih.gov/pubmed/26225150
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