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

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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.

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Author notes

  1. Chong Jai Kim

    Present address: Department of Pathology, Wayne State University School of Medicine, Detroit, Michigan, USA

Authors and Affiliations

  1. Department of Radiology, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea

    So-Young Yoo & Ji Hye Kim

  2. Department of Pediatrics, Seoul National University College of Medicine, 28, Youngon-dong, Chongno-gu, Seoul, 110-744, Korea

    Ho Seok Kang, Yong Seung Hwang, Ki Joong Kim & Jong Hee Chae

  3. Department of Radiology, Seoul National University College of Medicine, Seoul, Korea

    In-One Kim, Jung-Eun Cheon & Su-Mi Shin

  4. Department of Pathology, Seoul National University College of Medicine, Seoul, Korea

    Chong Jai Kim

  5. Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea

    Jee Hun Lee & Mun Hyang Lee

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  1. So-Young Yoo
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Correspondence to Jong Hee Chae.

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Yoo, SY., Kim, J.H., Kang, H.S. et al. Clinical and imaging findings of systemic hyalinosis: two cases presenting with congenital arthrogryposis. Skeletal Radiol 39, 589–593 (2010). https://doi.org/10.1007/s00256-009-0871-y

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  • DOI: https://doi.org/10.1007/s00256-009-0871-y

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