Schmid metaphyseal chondrodysplasia: an example of radiology guidance to molecular diagnosis

Abstract

Schmid metaphyseal chondrodysplasia is a rare genetic cause of skeletal dysplasia. Patients usually present skeletal abnormalities but no major visceral malformations or intellectual disability. We report a case of a 2-year-old male patient with short stature, progressive genu varum, and waddling gait. Radiographic findings were essential to guide investigation and molecular confirmation, allowing proper treatment and genetic counseling.

Keywords

• Schmid metaphyseal chondrodysplasia
• Skeletal dysplasia
• Short stature
• genu varum