title: Dysplasia epiphysealis hemimelica of the lower limb.
abstract: Dysplasia epiphysealis hemimelica (DEH) is a rare developmental disorder characterized by osteocartilaginous overgrowth in one or more epiphyses. The disease usually involves a single limb or is hemimelic (lateral or medial compartment), and lower extremities are more frequently affected than upper extremities. Here we present clinical and radiological findings for a male DEH patient at 1.5 and 3.5 years of age. The radiographs obtained at first presentation showed minimal osseous overgrowth and irregularity at the epiphyses around the left knee and ankle joints, respectively. Radiographs obtained at the second presentation showed osteocartilaginous masses at most epiphyses of the left lower extremity. Two months after diagnosis (at 3.7 years old), the patient had surgery on his left knee to relieve increased joint restriction. The histopathological diagnosis was consistent with an osteocartilaginous lesion. This case report presents imaging features and age-related progression of DEH in this patient.
authors.affiliation: School of Medicine, Radiology Department, Gaziosmanpasa University, Tokat, Turkey. rukenyuksekkaya@yahoo.com.
authors.forename: Ruken Yuksekkaya
authors.initials: RY
authors.lastname: Celıkyay
authors.affiliation: School of Medicine, Radiology Department, Gaziosmanpasa University, Tokat, Turkey. fatihcelikyay99@yahoo.com.
authors.forename: Fatih
authors.initials: F
authors.lastname: Celikyay
authors.affiliation: School of Medicine, Orthopedics and Traumatology Department, Gaziosmanpasa University, Tokat, Turkey.
authors.forename: Erkal
authors.initials: E
authors.lastname: Bilgic
authors.affiliation: School of Medicine, Orthopedics and Traumatology Department, Gaziosmanpasa University, Tokat, Turkey.
authors.forename: Murat
authors.initials: M
authors.lastname: Ascı
authors.affiliation: School of Medicine, Pathology Department, Gaziosmanpasa University, Tokat, Turkey.
authors.forename: Dogan
authors.initials: D
authors.lastname: Koseoglu
mesh_terms: D001848:Bone Diseases, Developmental / Q000000981:diagnostic imaging* / Q000473:pathology / Q000601:surgery; D002675:Child, Preschool; D018450:Disease Progression; D004838:Epiphyses / Q000000981:diagnostic imaging* / Q000473:pathology / Q000601:surgery; D005269:Femur / Q000002:abnormalities* / Q000000981:diagnostic imaging / Q000473:pathology / Q000601:surgery; D006801:Humans; D035002:Lower Extremity; D008297:Male; D013977:Tibia / Q000002:abnormalities* / Q000000981:diagnostic imaging / Q000473:pathology / Q000601:surgery
keywords: Dysplasia epiphysealis hemimelica; Magnetic resonance imaging; Radiography; Trevor-Fairbank disease