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.

中文翻译：

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委内瑞拉例Schmid型干phy端软骨发育不良伴COL10A1发生新突变。

施密特型干phy端软骨发育不良（MIM 156500）是一种罕见的常染色体显性骨骼发育异常，是由编码X型胶原α1（X）链的COL10A1基因（MIM 120110）中的杂合突变引起的。我们报告了一个8岁的女孩，步态蹒跚，身材矮小，背侧脊柱侧弯轻度，弓形，下肢短，股骨弓，膝内翻，meta骨磨损和张开，是新型杂合子2的携带者-CBP10A1基因第3外显子的-bp（c.1894_1895dupTA; p.Leu633Thrfs * 45）复制。