ABSTRACT

Schmid metaphyseal chondrodysplasia is characterized by moderate flaring and irregularity of the metaphyses, but a normal spine and short stature. It is due to mutation of the gene encoding type 10 collogen (COL10AI). Radiologic features include an enlarged proximal femoral epiphysis in early childhood, coxa vara, greather involvement of the distal femoral metaphysis than the proximal, anterior rib changes and normal spine. The radiographic changes are similar to rickets, but calcium and phosphorus metabolism is normal. In this report, we presented a 22 month old male patient who had clinic and radiological findings mimic rickets but with the laboratuary findings it is diagnosed as metaphyseal chondrodysplasia, Schmid type.