Citation, DOI, disclosures and article data
Citation:
Goel A, Alameer A, Basim D, et al. Metaphyseal chondrodysplasia. Reference article, Radiopaedia.org (Accessed on 09 Mar 2025) https://doi.org/10.53347/rID-24975
Metaphyseal chondrodysplasia (also known as metaphyseal dysplasia or dysostosis) is a type of skeletal dysplasia. It can occur as part of Shwachman-Diamond syndrome (SDS).
Pathology
Classification
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Schmid type - mild type, due to mutation in type X collagen (COL10A1 gene), metaphyses are cupped resembling rickets
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Pena and Vaandrager type - intermediate type
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Jansen type - severe type, irregular mineralization in the metaphyses
When associated with lesion in spine, it is called spondylometaphyseal dysplasia.
Differential diagnosis
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1. Nazará Z, Hernández A, Corona-Rivera E et-al. Further clinical and radiological features in metaphyseal chondrodysplasia Jansen type. Radiology. 1981;140 (3): 697-700. Radiology (abstract) - Pubmed citation
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2. Kozlowski K, Campbell JB, Azouz ME et-al. Metaphyseal chondrodysplasia, type Jansen. Australas Radiol. 2000;43 (4): 544-7. Pubmed citation
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3. Holthusen W, Holt JF, Stoeckenius M. The skull in metaphyseal chondrodysplasia type Jansen. Pediatr Radiol. 1976;3 (3): 137-44. Pubmed citation
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4. Lachman RS, Rimoin DL, Spranger J. Metaphyseal chondrodysplasia, Schmid type. Clinical and radiographic delineation with a review of the literature. Pediatr Radiol. 1988;18 (2): 93-102. Pubmed citation
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5. Savarirayan R, Cormier-Daire V, Lachman RS et-al. Schmid type metaphyseal chondrodysplasia: a spondylometaphyseal dysplasia identical to the "Japanese" type. Pediatr Radiol. 2000;30 (7): 460-3. Pubmed citation
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