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Orthopaedic Manifestations of Arthrogryposis-Renal Dysfunction-Cholestasis Syndrome
DC Field | Value | Language |
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dc.contributor.author | Jang, Woo Young | - |
dc.contributor.author | Cho, Tae-Joon | - |
dc.contributor.author | Bae, Jung Yun | - |
dc.contributor.author | Jung, Hae Woon | - |
dc.contributor.author | Ko, Jae Sung | - |
dc.contributor.author | Park, Moon Seok | - |
dc.contributor.author | Yoo, Won Joon | - |
dc.contributor.author | Chung, Chin Youb | - |
dc.contributor.author | Seo, Jeong Kee | - |
dc.contributor.author | Choi, In Ho | - |
dc.date.accessioned | 2023-05-08T00:52:32Z | - |
dc.date.available | 2023-05-08T00:52:32Z | - |
dc.date.created | 2020-07-16 | - |
dc.date.created | 2020-07-16 | - |
dc.date.created | 2020-07-16 | - |
dc.date.issued | 2011-01 | - |
dc.identifier.citation | Journal of Pediatric Orthopaedics, Vol.31 No.1, pp.107-112 | - |
dc.identifier.issn | 0271-6798 | - |
dc.identifier.uri | https://hdl.handle.net/10371/192126 | - |
dc.description.abstract | Background: Arthrogryposis-Renal dysfunction-Cholestasis (ARC) syndrome (MIM#208085) is a rare multisystem disorder, which involves the kidney, liver, skin, and central nervous and musculoskeletal systems. It is inherited as an autosomal-recessive trait, associated with germ-line mutations in the VPS33B gene. In this study, the authors reviewed the orthopaedic manifestations of ARC syndrome. Materials: Ten patients diagnosed as having ARC syndrome were the subjects of this study. ARC syndrome was confirmed by mutation analysis in 8 of the 10 patients. Medical records and radiographs were retrospectively reviewed with a focus on musculoskeletal manifestations. Results: Seven patients either expired at 4 to 19 months of age or were presumed to have expired. The remaining 3 patients remained alive at the time of writing this manuscript and were aged from 7 to 23 months. All patients showed musculoskeletal symptoms and/or signs, which included vertical talus (7 feet, 4 patients), pes calcaneovalgus (4 feet, 3 patients), hip dislocation (6 hips, 3 patients), pathologic fractures (5 fractures in 5 patients), and rigid kyphosis (2 patients). No surgical intervention was performed. Orthopaedic treatments, other than fracture management, were abandoned soon after diagnoses were made. Conclusions: ARC syndrome should be included in the differential diagnosis of arthrogryposis. As there is no specific effective treatment for renal dysfunction and cholestasis, orthopaedic intervention should be postponed until long-term survival is expected, though this is unlikely. | - |
dc.language | 영어 | - |
dc.publisher | Lippincott Williams & Wilkins Ltd. | - |
dc.title | Orthopaedic Manifestations of Arthrogryposis-Renal Dysfunction-Cholestasis Syndrome | - |
dc.type | Article | - |
dc.identifier.doi | 10.1097/BPO.0b013e3182032c83 | - |
dc.citation.journaltitle | Journal of Pediatric Orthopaedics | - |
dc.identifier.wosid | 000287192700019 | - |
dc.identifier.scopusid | 2-s2.0-78650957182 | - |
dc.citation.endpage | 112 | - |
dc.citation.number | 1 | - |
dc.citation.startpage | 107 | - |
dc.citation.volume | 31 | - |
dc.description.isOpenAccess | N | - |
dc.contributor.affiliatedAuthor | Cho, Tae-Joon | - |
dc.contributor.affiliatedAuthor | Ko, Jae Sung | - |
dc.contributor.affiliatedAuthor | Park, Moon Seok | - |
dc.contributor.affiliatedAuthor | Yoo, Won Joon | - |
dc.contributor.affiliatedAuthor | Chung, Chin Youb | - |
dc.contributor.affiliatedAuthor | Seo, Jeong Kee | - |
dc.contributor.affiliatedAuthor | Choi, In Ho | - |
dc.type.docType | Article | - |
dc.description.journalClass | 1 | - |
dc.subject.keywordPlus | PIGMENTARY LIVER-DISEASE | - |
dc.subject.keywordPlus | ARC SYNDROME | - |
dc.subject.keywordPlus | MULTIPLEX CONGENITA | - |
dc.subject.keywordPlus | VPS33B MUTATION | - |
dc.subject.keywordPlus | ICHTHYOSIS | - |
dc.subject.keywordPlus | FAMILY | - |
dc.subject.keywordAuthor | arthrogryposis | - |
dc.subject.keywordAuthor | renal dysfunction | - |
dc.subject.keywordAuthor | cholestasis | - |
dc.subject.keywordAuthor | pathologic fracture | - |
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