Schmid metaphyseal chondrodysplasia: an example of radiology guidance to molecular diagnosis

Schmid metaphyseal chondrodysplasia is a rare genetic cause of skeletal dysplasia. Patients usually present skeletal abnormalities but no major visceral malformations or intellectual disability. We report a case of a 2-year-old male patient with short stature, progressive genu varum, and waddling ga...

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Detalles Bibliográficos
Autores principales: de França, Marina, de Faria Soares, Maria de Fátima, Luce, Ana Luiza Pilla, Perrone, Eduardo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2020
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7553887/
https://www.ncbi.nlm.nih.gov/pubmed/33082897
http://dx.doi.org/10.1016/j.radcr.2020.08.005

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7553887/
https://www.ncbi.nlm.nih.gov/pubmed/33082897
http://dx.doi.org/10.1016/j.radcr.2020.08.005

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