Schmid-type metaphyseal chondrodysplasia (MIM 156500) is an uncommon autosomal dominant skeletal dysplasia caused by heterozygous mutations in the COL10A1 gene (MIM 120110) encoding the α1(X) chains of type X collagen. We report an 8-year-old girl with waddling gait, short stature, mild dorsal scoliosis, coxa vara, short lower limbs, bowing of the femurs, genu varum, and metaphyseal fraying and splaying, who is a carrier of a novel heterozygous 2-bp (c.1894-1895dupTA; p.Leu633Thrfs∗45) duplication in exon 3 of the COL10A1 gene.
|Number of pages||4|
|Publication status||Published (in print/issue) - 2 Feb 2019|
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© 2018 S. Karger AG, Basel. All rights reserved.
Copyright 2019 Elsevier B.V., All rights reserved.
- COL10A1 mutation
- Schmid-type metaphyseal chondrodysplasia