Schmid metaphyseal chondrodysplasia: an example of radiology guidance to molecular diagnosis
oleh: Marina de França, MD, Maria de Fátima de Faria Soares, MD, MSc, Ana Luiza Pilla Luce, MD, MSc, Eduardo Perrone, MD, MSc
| Format: | Article |
|---|---|
| Diterbitkan: | Elsevier 2020-12-01 |
Deskripsi
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.