Journal List > Korean J Pediatr Gastroenterol Nutr > v.3(1) > 1110514

Korean J Pediatr Gastroenterol Nutr. 2000 Mar;3(1):110-115. Korean.
Published online Mar 31, 2000.  https://doi.org/10.5223/kjpgn.2000.3.1.110
Copyright © 2000 The Korean Society of Pediatric Gastroenterology, Hepatology and Nutrition
Two Cases of ARC (Arthrogryposis, renal dysfunction and cholestasis) Syndrome
Ja Hyeon Hong, Chang Han Lee and Ki Sup Chung
Department 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.

Keywords: Arthrogryposis; Renal dysfunction; Cholestasis