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Dysplasia epiphysealis hemimelica of the lower limb

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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.

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Authors and Affiliations

  1. School of Medicine, Radiology Department, Gaziosmanpasa University, Tokat, Turkey

    Ruken Yuksekkaya Celıkyay & Fatih Celikyay

  2. School of Medicine, Orthopedics and Traumatology Department, Gaziosmanpasa University, Tokat, Turkey

    Erkal Bilgic & Murat Ascı

  3. School of Medicine, Pathology Department, Gaziosmanpasa University, Tokat, Turkey

    Dogan Koseoglu

Authors
  1. Ruken Yuksekkaya Celıkyay
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  2. Fatih Celikyay
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  3. Erkal Bilgic
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  4. Murat Ascı
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  5. Dogan Koseoglu
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Correspondence to Ruken Yuksekkaya Celıkyay or Fatih Celikyay.

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Celıkyay, R.Y., Celikyay, F., Bilgic, E. et al. Dysplasia epiphysealis hemimelica of the lower limb. Skeletal Radiol 46, 111–115 (2017). https://doi.org/10.1007/s00256-016-2491-7

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  • DOI: https://doi.org/10.1007/s00256-016-2491-7

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