Schmid Type Metaphyseal Chondrodysplasia with a Novel COL10A1 Mutation.

Indian J Pediatr. 2019 Feb;86(2):183-185. Epub 2018 Sep 12

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摘要

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.

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Schmid Type Metaphyseal Chondrodysplasia with a Novel COL10A1 Mutation.

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