title: Bilateral dysplasia epiphysealis hemimelica of the talus associated with a lower leg intramuscular cartilaginous mass.
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.
authors.affiliation: Department of Pediatric Radiology, Jeanne de Flandre Hospital, Centre Hospitalier et Universitaire de Lille, Avenue Eugène Avinée, Lille, France.
authors.forename: Emilie
authors.initials: E
authors.lastname: Wiart
authors.forename: Jean-François
authors.initials: JF
authors.lastname: Budzik
authors.forename: Damien
authors.initials: D
authors.lastname: Fron
authors.forename: Bernard
authors.initials: B
authors.lastname: Herbaux
authors.forename: Nathalie
authors.initials: N
authors.lastname: Boutry
mesh_terms: D000293:Adolescent; D001848:Bone Diseases, Developmental / Q000534:rehabilitation*; D002356:Cartilage / Q000002:abnormalities* / Q000000981:diagnostic imaging*; D005260:Female; D005269:Femur / Q000002:abnormalities; D006801:Humans; D007866:Leg / Q000000981:diagnostic imaging*; D011859:Radiography; D013628:Talus / Q000000981:diagnostic imaging*; D013977:Tibia / Q000002:abnormalities