Dysplasia epiphysealis hemimelica in a young girl: role of MRI in the diagnosis and follow-up

This report describes a sporadic case of dysplasia epiphysealis hemimelica that developed in the proximal tibia of a 21-month-old girl. Three years after the surgical intervention the patient has made complete clinical recovery with a normal range of motion, a walk with no limping or pain, no leg length discrepancy or angular knee deformity. Even though the proximal tibia does not represent an infrequently involved site, we report the clinical, pathological and radiological features of our case both for the extreme rarity of dysplasia epiphysealis hemimelica and the very young age of the patient. The authors underline also the role of magnetic resonance imaging in the diagnosis, management and follow-up of this very rare condition.