Case Report

A rare case of cholestasis: arthrogryposis, renal tubular disorder and cholestasis syndrome.

10.4274/jpr.38257

  • Yelda Türkmenoğlu
  • Yeşim Acar
  • Fatih Cemal Özdemir
  • Ralfi Singer
  • Afig Berdeli
  • Servet Erdal Adal

J Pediatr Res 0;0(0):0-0 [e-Pub]

Arthrogryposis, renal tubular dysfunction and cholestasis (ARC) syndrome is a rare, autosomal recessive multisystem disorder. Severe growth retardation, ichthyosis, recurrent febrile disease, platelet abnormalities, sensorinueral hearing loss, hypotonia and corpus callosum dysgenesis were later added features of the syndrome. We present a case of ARC syndrome diagnosed by genetic analysis.

Keywords: arthrogryposis,ihcthyosis,cholestasis,renal tubular disorder