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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...
| Autores principales: | , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Elsevier
2020
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| Materias: | |
| 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 |