Korean J Pediatr Gastroenterol Nutr.
2000 Mar;3(1):110-115.
Two Cases of ARC (Arthrogryposis, renal dysfunction and cholestasis) Syndrome
- Affiliations
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- 1Department of Pediatrics, Yonsei University College of Medicine, Seoul, Korea.
Abstract
- ARC (arthrogryposis multiplex congrnita, renal dysfunction and cholestasis) syndrome was first described by Lutz-Richner and Landolt in 1973 and after then similar cases were scarcely reported worldwide. There's no reported case in Korea. It was first suggested that ARC syndrome was inherited by X-linked recessive trait but now it was thought to be inherited by autosomal recessive trait also. Most parents were consanguineous but some unconsanuineous parents were also reported. We report on 1 male and 1 female infant who had ARC syndrome from 2 unrelated families. They were born from unconsanguineous parents.
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