Bilateral dysplasia epiphysealis hemimelica of the talus associated with a lower leg intramuscular cartilaginous mass

Dysplasia epiphysealis hemimelica (DEH), or Trevor disease, is a rare skeletal dysplasia characterised by an osteocartilaginous mass arising from an epiphysis. It affects single or multiple epiphyses in children, usually in the lower limb, predominantly the knee and ankle. Bilateral involvement is extremely rare, with only four cases reported in the literature to date. We report an additional case of bilateral DEH of the talus in a 14-year-old girl with an associated, not previously reported, intramuscular cartilaginous mass of the left lower leg. Clinical, radiological and pathological findings are presented. We emphasise the role of MRI and US in the diagnosis of DEH.