Schmid metaphyseal chondrodysplasia
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| Schmid metaphyseal chondrodysplasia | |
|---|---|
| Classification and external resources | |
| Specialty | Lua error in Module:Wikidata at line 446: attempt to index field 'wikibase' (a nil value). |
| OMIM | 156500 |
| Patient UK | Schmid metaphyseal chondrodysplasia |
Schmid metaphyseal chondrodysplasia is a type of chondrodysplasia associated with a deficiency of collagen, type X, alpha 1.[1][2][3]
Unlike other "rickets syndromes", affected individuals have normal serum calcium, phosphorus, and urinary amino acid levels. Long bones are short and curved, with widened growth plates and metaphyses.[4]
It is named for the German researcher F. Schmid, who characterized it in 1949.[5]
References
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- ↑ Benson, Michael. "Children's Orthopaedics and Fractures". Springer. p. 93.
- ↑ Schmid, F. Beitrag zur Dysostosis enchondralis metaphysarea. Mschr. Kinderheilk. 97: 393-397, 1949.
