Literature DB >> 8151641

Liver histology in the arthrogryposis multiplex congenita, renal dysfunction, and cholestasis (ARC) syndrome: report of three new cases and review.

S P Horslen1, O W Quarrell, M S Tanner.   

Abstract

We report three cases from two unrelated families of infants with arthrogryposis multiplex congenita, cholestatic jaundice, and renal Fanconi's syndrome. In both families the parents were consanguineous. All three children died by 7 months of age. This association was first reported in 1973 by Lutz-Richner and Landolt and again in another family by Nezelof et al in 1979. However, because of differing liver histology the two sibships were considered to have two separate conditions. Based on the histological findings in one of our cases we propose that all cases described so far represent variation within a single syndrome.

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Year:  1994        PMID: 8151641      PMCID: PMC1049602          DOI: 10.1136/jmg.31.1.62

Source DB:  PubMed          Journal:  J Med Genet        ISSN: 0022-2593            Impact factor:   6.318


  4 in total

1.  Arthrogryposis multiplex congenita with renal and hepatic abnormalities in a female infant.

Authors:  J M Saraiva; C Lemos; I Gonçalves; F Carneiro; H C Mota
Journal:  J Pediatr       Date:  1990-11       Impact factor: 4.406

2.  A lethal familial syndrome associating arthrogryposis multiplex congenita, renal dysfunction, and a cholestatic and pigmentary liver disease.

Authors:  C Nezelof; M C Dupart; F Jaubert; E Eliachar
Journal:  J Pediatr       Date:  1979-02       Impact factor: 4.406

3.  Arthrogryposis, cholestatic pigmentary liver disease and renal dysfunction: report of a second family.

Authors:  M Di Rocco; E Reboa; A Barabino; A Larnaout; M Canepa; C Savioli; M Cremonte; C Borrone
Journal:  Am J Med Genet       Date:  1990-10

4.  Renal tubular insufficiency, cholestatic jaundice, and multiple congenital anomalies--a new multisystem syndrome.

Authors:  M A Mikati; A Y Barakat; H B Sulh; V M Der Kaloustian
Journal:  Helv Paediatr Acta       Date:  1984-12
  4 in total
  13 in total

1.  Two novel VPS33B mutations in a patient with arthrogryposis, renal dysfunction and cholestasis syndrome in mainland China.

Authors:  Li-Ting Li; Jing Zhao; Rui Chen; Jian-She Wang
Journal:  World J Gastroenterol       Date:  2014-01-07       Impact factor: 5.742

2.  Metazoan cell biology of the HOPS tethering complex.

Authors:  Stephanie A Zlatic; Karine Tornieri; Steven W L'hernault; Victor Faundez
Journal:  Cell Logist       Date:  2011-05

3.  Arthrogryposis multiplex congenita, renal dysfunction, and cholestasis syndrome.

Authors:  J M Saraiva; H C Mota
Journal:  J Med Genet       Date:  1994-10       Impact factor: 6.318

4.  ARC syndrome with high GGT cholestasis caused by VPS33B mutations.

Authors:  Jian-She Wang; Jing Zhao; Li-Ting Li
Journal:  World J Gastroenterol       Date:  2014-04-28       Impact factor: 5.742

5.  Mutations in VIPAR cause an arthrogryposis, renal dysfunction and cholestasis syndrome phenotype with defects in epithelial polarization.

Authors:  Andrew R Cullinane; Anna Straatman-Iwanowska; Andreas Zaucker; Yoshiyuki Wakabayashi; Christopher K Bruce; Guanmei Luo; Fatimah Rahman; Figen Gürakan; Eda Utine; Tanju B Ozkan; Jonas Denecke; Jurica Vukovic; Maja Di Rocco; Hanna Mandel; Hakan Cangul; Randolph P Matthews; Steve G Thomas; Joshua Z Rappoport; Irwin M Arias; Hartwig Wolburg; A S Knisely; Deirdre A Kelly; Ferenc Müller; Eamonn R Maher; Paul Gissen
Journal:  Nat Genet       Date:  2010-02-28       Impact factor: 38.330

6.  Molecular investigations to improve diagnostic accuracy in patients with ARC syndrome.

Authors:  Andrew R Cullinane; Anna Straatman-Iwanowska; Jeong K Seo; Jae S Ko; Kyung S Song; Maria Gizewska; Dariusz Gruszfeld; Dorota Gliwicz; Beyhan Tuysuz; Gulin Erdemir; Rachid Sougrat; Yoshiyuki Wakabayashi; Rupert Hinds; Angela Barnicoat; Hanna Mandel; David Chitayat; Björn Fischler; Angels Garcia-Cazorla; A S Knisely; Deirdre A Kelly; Eamonn R Maher; Paul Gissen
Journal:  Hum Mutat       Date:  2009-02       Impact factor: 4.878

Review 7.  Arthrogryposis, renal dysfunction and cholestasis syndrome: report of five patients from three Italian families.

Authors:  M Di Rocco; F Callea; B Pollice; M Faraci; F Campiani; C Borrone
Journal:  Eur J Pediatr       Date:  1995-10       Impact factor: 3.183

8.  Lethal contractural syndrome type 3 (LCCS3) is caused by a mutation in PIP5K1C, which encodes PIPKI gamma of the phophatidylinsitol pathway.

Authors:  Ginat Narkis; Rivka Ofir; Daniella Landau; Esther Manor; Micha Volokita; Relly Hershkowitz; Khalil Elbedour; Ohad S Birk
Journal:  Am J Hum Genet       Date:  2007-07-24       Impact factor: 11.025

Review 9.  Arc syndrome without arthrogryposis, with hip dislocation and renal glomerulocystic appearance: a case report.

Authors:  Ebru Arhan; Arzu Meltem Yusufoğlu; Tülin Revide Sayli
Journal:  Eur J Pediatr       Date:  2008-10-30       Impact factor: 3.183

10.  Clinical and molecular genetic features of ARC syndrome.

Authors:  Paul Gissen; Louise Tee; Colin A Johnson; Emmanuelle Genin; Almuth Caliebe; David Chitayat; Carol Clericuzio; Jonas Denecke; Maja Di Rocco; Björn Fischler; David FitzPatrick; Angeles García-Cazorla; Delphine Guyot; Sebastien Jacquemont; Sibylle Koletzko; Bruno Leheup; Hanna Mandel; Maria Teresa Vieira Sanseverino; Roderick H J Houwen; Patrick J McKiernan; Deirdre A Kelly; Eamonn R Maher
Journal:  Hum Genet       Date:  2006-08-01       Impact factor: 4.132

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