Two Cases of ARC (Arthrogryposis, renal dysfunction and cholestasis) Syndrome.
- Author:
Ja Hyeon HONG
1
;
Chang Han LEE
;
Ki Sup CHUNG
Author Information
1. Department of Pediatrics, Yonsei University College of Medicine, Seoul, Korea.
- Publication Type:Case Report
- Keywords:
Arthrogryposis;
Renal dysfunction;
Cholestasis
- MeSH:
Arthrogryposis;
Cholestasis;
Female;
Humans;
Infant;
Korea;
Male;
Parents
- From:Korean Journal of Pediatric Gastroenterology and Nutrition
2000;3(1):110-115
- CountryRepublic of Korea
- Language:Korean
-
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.
