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

Omar Abu-Sa'Da, Maha Barbar, Naffaa Al-Harbi, Doris Taha

Research output: Contribution to journalReview articlepeer-review

21 Scopus citations

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.

Original languageEnglish
Pages (from-to)191-196
Number of pages6
JournalClinical Dysmorphology
Volume14
Issue number4
DOIs
StatePublished - Oct 2005

Keywords

  • Arthrogryposis
  • Cholestasis
  • Consanguinity
  • Fanconi syndrome
  • Renal tubular acidosis

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