Arthrogryposis, renal tubular acidosis and cholestasis (ARC) syndrome: two new cases and review.
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.
Abu-Sa'da
Omar
O
Division of general pediatrics Division of Pediatric Gastroenterology Division of Pediatric Nephrology Division of Pediatric Endocrinology, Department of Pediatrics, King Faisal Specialist Hospital and Research Centre-Jeddah, Kingdom of Saudi Arabia.
Barbar
Maha
M
Al-Harbi
Naffaa
N
Taha
Doris
D
D000015:Abnormalities, Multiple / Q000473:pathology*; D000141:Acidosis, Renal Tubular / Q000473:pathology*; D001176:Arthrogryposis / Q000473:pathology*; D002540:Cerebral Cortex / Q000002:abnormalities; D002779:Cholestasis / Q000473:pathology*; D005260:Female; D006801:Humans; D007223:Infant; D008279:Magnetic Resonance Imaging; D008297:Male; D012529:Saudi Arabia; D013577:Syndrome