AI Article Synopsis

  • Dysplasia epiphysealis hemimelica (DEH), also known as Trevor disease, is a rare bone condition in children that causes abnormal growths in the cartilage and bone at the joints, mainly in the lower limbs.
  • Bilateral cases are extremely uncommon, with only four previously reported; the study presents a new case involving both taluses in a 14-year-old girl, along with an additional unusual cartilage mass in her left leg.
  • The report highlights the importance of MRI and ultrasound (US) for accurately diagnosing DEH.

Article Abstract

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.

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Source
http://dx.doi.org/10.1007/s00247-011-2224-yDOI Listing

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