hrp0092p2-55 | Bone, Growth Plate and Mineral Metabolism | ESPE2019

A Novel Missense COL10A1 Mutation Identified by Next Generation Sequencing in a Chinese Pedigree with Schmid Metaphyseal Chondrodysplasia

Chen Qiong , Wu Shengnan , Chen Yongxing , Wei Haiyan

We have examined a female child patient aged about 3 years and 8months old to confirm the diagnosis of Schmid metaphyseal chondrodysplasia (SMCD) at the Genetics out-patient department, Children's Hospital Affiliated to Zhengzhou University. The child was diagnosed with the abnormal phenotypic characteristics who showed short-limbed dwarfism, bowed legs, waddling gait and genu varum. Based on the child's family history, during the early stages, the child was misdiagnos...