title: Orthopaedic manifestations of arthrogryposis-renal dysfunction-cholestasis syndrome.
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.
  
  
  METHODS
  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.
  
  
  METHODS
  Level IV, diagnostic studies, case series.
authors.affiliation: Department of Orthopaedic Surgery, Seoul National University Children's Hospital, Seoul, South Korea.
authors.forename: Woo Young
authors.initials: WY
authors.lastname: Jang
authors.forename: Tae-Joon
authors.initials: TJ
authors.lastname: Cho
authors.forename: Jung Yun
authors.initials: JY
authors.lastname: Bae
authors.forename: Hae Woon
authors.initials: HW
authors.lastname: Jung
authors.forename: Jae Sung
authors.initials: JS
authors.lastname: Ko
authors.forename: Moon Seok
authors.initials: MS
authors.lastname: Park
authors.forename: Won Joon
authors.initials: WJ
authors.lastname: Yoo
authors.forename: Chin Youb
authors.initials: CY
authors.lastname: Chung
authors.forename: Jeong Kee
authors.initials: JK
authors.lastname: Seo
authors.forename: In Ho
authors.initials: IH
authors.lastname: Choi
mesh_terms: D001176:Arthrogryposis / Q000175:diagnosis / Q000235:genetics / Q000503:physiopathology; D002779:Cholestasis / Q000175:diagnosis / Q000235:genetics / Q000503:physiopathology; D003937:Diagnosis, Differential; D005260:Female; D018095:Germ-Line Mutation; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D009140:Musculoskeletal Diseases / Q000175:diagnosis / Q000209:etiology / Q000503:physiopathology*; D051437:Renal Insufficiency / Q000175:diagnosis / Q000235:genetics / Q000503:physiopathology; D012189:Retrospective Studies; D033921:Vesicular Transport Proteins / Q000235:genetics*
chemical_list: C411584:VPS33B protein, human; D033921:Vesicular Transport Proteins