Volume 13, Issue 38 (Mar 2003)
J Mazandaran Univ Med Sci 2003, 13(38): 81-84 |
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Haydaryan F, Silanyan tosi F. Case report on schmid type metaphyseal chondrodysplasia . J Mazandaran Univ Med Sci 2003; 13 (38) :81-84
URL: http://jmums.mazums.ac.ir/article-1-752-en.html
URL: http://jmums.mazums.ac.ir/article-1-752-en.html
Abstract: (11617 Views)
Mataphyseal chondrodysplasia is a term for group of dysplasias, characterized by radiographic changes in metaphyse tubular bones with normal epiphysis. Ït has various types with the name of Schmid type Janson and Mckusis. Schmid type metaphyseal chondrodysplasia is more common in infants, characterized by slight to moderate hieght, bending of limbs and waddling gate. This disease is caused by mutation in gene coding collagene type X and has dominant inherited autosome. Radiologic image includes: widening and cupping of metatphyses, shortening of tubular bone genavara and coxavara. Ôn the basis of laboratory findings Ça, P and ÂLP are normal. Ïn other words, blood chemistry is normal. Ïn this study, report is given on a 13 months old neonate with Schmit type metaphyseal chonrodysplasia.
Type of Study: Research(Original) |
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