Arthrogryposis, renal tubular acidosis and cholestasis (ARC) syndrome: two new cases and review

Clin Dysmorphol. 2005 Oct;14(4):191-196.

Abstract

ARC syndrome, the association of arthrogryposis, renal tubular dysfunction and cholestasis, is a rare genetic disorder. We report two Saudi infants from two different families with ARC syndrome. Magnetic resonance imaging of the brain of one of the infants showed lissencephaly, a previously unreported finding in this syndrome. We also review 39 ARC cases reported in the literature using the Medline database from January 1966 to September 2004.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Abnormalities, Multiple / pathology*
  • Acidosis, Renal Tubular / pathology*
  • Arthrogryposis / pathology*
  • Cerebral Cortex / abnormalities
  • Cholestasis / pathology*
  • Female
  • Humans
  • Infant
  • Magnetic Resonance Imaging
  • Male
  • Saudi Arabia
  • Syndrome