Schmid metaphyseal chondrodysplasia
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| Schmid metaphyseal chondrodysplasia | |
|---|---|
| Classification and external resources | |
| OMIM | 156500 |
Schmid metaphyseal chondrodysplasia is a type of chondrodysplasia associated with a deficiency of collagen, type X, alpha 1.[1][2][3]
These individuals will have normal serum calcium, phosphorus, and urinary amino acid levels which distinguishes them from many of the rickets syndromes. Long bones will be short and curved, with widened growth plates and metaphysis [4]
It is named for F Schmid, who characterized it in 1949.[5]
References
- ↑ Mäkitie O, Susic M, Ward L, Barclay C, Glorieux FH, Cole WG (September 2005). "Schmid type of metaphyseal chondrodysplasia and COL10A1 mutations--findings in 10 patients". Am. J. Med. Genet. A 137A (3): 241–8. doi:10.1002/ajmg.a.30855. PMID 16088909.
- ↑ Ho MS, Tsang KY, Lo RL, et al. (May 2007). "COL10A1 nonsense and frame-shift mutations have a gain-of-function effect on the growth plate in human and mouse metaphyseal chondrodysplasia type Schmid". Hum. Mol. Genet. 16 (10): 1201–15. doi:10.1093/hmg/ddm067. PMID 17403716.
- ↑ Tan JT, Kremer F, Freddi S, et al. (March 2008). "Competency for nonsense-mediated reduction in collagen X mRNA is specified by the 3' UTR and corresponds to the position of mutations in Schmid metaphyseal chondrodysplasia". Am. J. Hum. Genet. 82 (3): 786–93. doi:10.1016/j.ajhg.2008.01.006. PMC 2427218. PMID 18304492.
- ↑ Benson, Michael. "Children's Orthopaedics and Fractures". Springer. p. 93.
- ↑ Schmid, F. Beitrag zur Dysostosis enchondralis metaphysarea. Mschr. Kinderheilk. 97: 393-397, 1949.
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