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Skeletal Radiology

, Volume 39, Issue 6, pp 589–593 | Cite as

Clinical and imaging findings of systemic hyalinosis: two cases presenting with congenital arthrogryposis

  • So-Young Yoo
  • Ji Hye Kim
  • Ho Seok Kang
  • Yong Seung Hwang
  • Ki Joong Kim
  • In-One Kim
  • Jung-Eun Cheon
  • Su-Mi Shin
  • Chong Jai Kim
  • Jee Hun Lee
  • Mun Hyang Lee
  • Jong Hee ChaeEmail author
Case Report

Abstract

Systemic hyalinosis is a rare, multisystem, progressive, autosomal recessive disorder of connective tissue characterized by diffuse hyaline deposition in the skin, bone or viscera. Owing to its rarity and initial manifestations that resemble arthrogryposis congenital multiplexa, correct diagnosis can be elusive and often delayed. We present the computed tomography (CT) and whole-body (WB) magnetic resonance (MR) findings in two unrelated children with systemic hyalinosis who came to medical attention because of multiple joint contractures and limitation of motion in early infancy.

Keywords

Hyalinosis Computed tomography (CT) Magnetic resonance imaging (MRI) Congenital arthrogryposis 

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Copyright information

© ISS 2010

Authors and Affiliations

  • So-Young Yoo
    • 1
  • Ji Hye Kim
    • 1
  • Ho Seok Kang
    • 2
  • Yong Seung Hwang
    • 2
  • Ki Joong Kim
    • 2
  • In-One Kim
    • 3
  • Jung-Eun Cheon
    • 3
  • Su-Mi Shin
    • 3
  • Chong Jai Kim
    • 4
  • Jee Hun Lee
    • 5
  • Mun Hyang Lee
    • 5
  • Jong Hee Chae
    • 2
    Email author
  1. 1.Department of RadiologySamsung Medical Center, Sungkyunkwan University School of MedicineSeoulKorea
  2. 2.Department of PediatricsSeoul National University College of MedicineSeoulKorea
  3. 3.Department of RadiologySeoul National University College of MedicineSeoulKorea
  4. 4.Department of PathologySeoul National University College of MedicineSeoulKorea
  5. 5.Department of PediatricsSamsung Medical Center, Sungkyunkwan University School of MedicineSeoulKorea

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