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Schmid metaphyseal chondrodysplasia : ウィキペディア英語版 | Schmid metaphyseal chondrodysplasia
Schmid metaphyseal chondrodysplasia is a type of chondrodysplasia associated with a deficiency of collagen, type X, alpha 1. 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.〔Benson, Michael. "Children's Orthopaedics and Fractures". Springer. p. 93.〕 It is named for the German researcher F. Schmid, who characterized it in 1949.〔Schmid, F. Beitrag zur Dysostosis enchondralis metaphysarea. Mschr. Kinderheilk. 97: 393-397, 1949.〕 ==References==
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