A Novel Presentation of Metaphyseal Chondrodysplasia, Schmid Type with Factor VII Deficiency

Metaphyseal chondrodysplasia, Schmid type (MDSC) is a rare inherited autosomal disorder with characteristic skeletal deformities striking on radiological imaging, which includes metaphyseal cupping and fraying. Physical examination reveals short stature in early childhood, frontoparietal bossing, ra...

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Detalles Bibliográficos
Autores principales: Ahmed, Mushtaq, Nasir, Saad, Riaz Hashmi, Syeda Shaheera, Iqbal, Zia, Saleem, Ayesha
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cureus 2020
Materias:
Pediatrics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7176329/
https://www.ncbi.nlm.nih.gov/pubmed/32328382
http://dx.doi.org/10.7759/cureus.7371

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7176329/
https://www.ncbi.nlm.nih.gov/pubmed/32328382
http://dx.doi.org/10.7759/cureus.7371

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