Schmid Type of Metaphyseal Chondrodysplasia with COL10A1 Mutation

The Schmid type of metaphyseal chondrodysplasia (MCDS) is characterized by short stature, widened growth plates, and bowing of the long bones, resulting from autosomal dominant mutations of COL10A1. We report a patient with MCDS and COL10A1 mutation. A 4-year 7-month-old boy was referred to our hospital because of bowing of the legs and short stature. His mother showed short stature and bowing of the legs, too. His height and weight were 75 cm (A)(heterozygote) mutation in the COL10A1 gene was identified. The patient was diagnosed with MCDS. We report this patient with MCDS and COL10A1 mutation as it is a rarely seen case.