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
[[[d:Lua error in Module:Wikidata at line 863: attempt to index field 'wikibase' (a nil value).|edit on Wikidata]]]

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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  4. Benson, Michael. "Children's Orthopaedics and Fractures". Springer. p. 93.
  5. Schmid, F. Beitrag zur Dysostosis enchondralis metaphysarea. Mschr. Kinderheilk. 97: 393-397, 1949.


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