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01.06.2010 | Case Report

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

verfasst von: 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 Chae

Erschienen in: Skeletal Radiology | Ausgabe 6/2010

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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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Titel: Clinical and imaging findings of systemic hyalinosis: two cases presenting with congenital arthrogryposis
verfasst von: 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 Chae
Publikationsdatum: 01.06.2010
Verlag: Springer-Verlag
Erschienen in: Skeletal Radiology / Ausgabe 6/2010
Print ISSN: 0364-2348
Elektronische ISSN: 1432-2161
DOI: https://doi.org/10.1007/s00256-009-0871-y

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

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