metaphyseal chondrodysplasia
Metaphyseal
chondrodysplasia • Metaphyseal chondrodysplasia - Ganzer Fall bei Radiopaedia
Metaphyseal chondrodysplasia (also known as metaphyseal dysplasia or dysostosis) is a type of skeletal dysplasia.
Pathology
Classification
- Schmid type - mild type, due to mutation in type X collagen (COL10A1 gene), metaphyses are cupped resembling rickets
- Pena and Vaandrager type - intermediate type
- Jansen type - severe type, irregular mineralization in the metaphyses
When associated with lesion in spine, it is called spondylometaphyseal dysplasia.
Differential diagnosis
Siehe auch:
und weiter:
Assoziationen und Differentialdiagnosen zu Metaphysäre Chondrodysplasie:
