Schmid Type Metaphyseal Chondrodysplasia with a Novel COL10A1 Mutation
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Schmid type metaphyseal chondrodysplasia (SMCD) is a rare skeletal dysplasia, characterized by short stature, short limbs, bowing of the legs, and radiographic features of metaphyseal irregularities with fraying and splaying, more severe at the knee. It is caused by mutations of the COL10A1 gene. The authors present an Indian patient with a novel COL10A1 gene mutation.
KeywordsChondrodysplasia Metaphyseal irregularity COL10A1 mutations
MG and AC reviewed and diagnosed the case. AB helped in making the diagnosis. MG wrote the manuscript. AG critically reviewed the article and will act as guarantor for this paper.
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- 4.Gokhale S, Mehta S. Schmid type metaphyseal chondrodysplasia. Indian Pediatr. 2005;42:1252.Google Scholar