Arthrogryposis, renal tubular acidosis and cholest...[Clin Dysmorphol. 2005]

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1: Clin Dysmorphol. 2005 Oct;14(4):191-6. Links

Comment in:: Clin Dysmorphol. 2007 Jan;16(1):71.

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

Abu-Sa'da O, Barbar M, Al-Harbi N, Taha D.

Division of General Pediatrics, Department of Pediatrics, King Faisal Specialist Hospital and Research Centre-Jeddah, Kingdom of Saudi Arabia.

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.

PMID: 16155421 [PubMed - indexed for MEDLINE]

Arthrogryposis, renal tubular acidosis and cholestasis syndrome: spectrum of the clinical manifestations. [Clin Dysmorphol. 2007]
ReviewLiver histology in the arthrogryposis multiplex congenita, renal dysfunction, and cholestasis (ARC) syndrome: report of three new cases and review. [J Med Genet. 1994]
Cerebral defects and nephrogenic diabetes insipidus with the ARC syndrome: additional findings or a new syndrome (ARCC-NDI)? [Am J Med Genet. 1997]
ReviewArthrogryposis, renal dysfunction and cholestasis syndrome: report of five patients from three Italian families. [Eur J Pediatr. 1995]
[Arthrogryposis, renal tubular dysfunction, cholestasis (ARC) syndrome: case report and review of the literature] [Klin Padiatr. 2000]

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

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