S-Space College of Medicine/School of Medicine (의과대학/대학원) Pathology (병리학전공) Journal Papers (저널논문_병리학전공)
Clinical and imaging findings of systemic hyalinosis: two cases presenting with congenital arthrogryposis
- Yoo, So-Young; Kim, Ji Hye; Kang, Ho Seok; Hwang, Yong Seung; Kim, In-One; Shin, Su-Mi; Lee, Jee Hun; Chae, Jong Hee; Lee, Mun Hyang; Kim, Chong Jai; Cheon, Jung-Eun; Kim, Ki Joong
- Issue Date
- SKELETAL RADIOLOGY; Vol.39 6; 589-593
- Hyalinosis; Magnetic resonance imaging (MRI); Computed tomography (CT); Congenital arthrogryposis
- 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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