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KMID : 0816120000030010110
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Korean Journal of Pediatric Gastroenterolology and Nutrition
2000 Volume.3 No. 1 p.110 ~ p.115
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Two Cases of ARC (Arthrogryposis, renal dysfunction and cholestasis) Syndrome
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Hong Ja-Hyeon
Chung Ki-Sup
Lee Chang-Han
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Abstract
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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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KEYWORD
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Arthrogryposis, Renal dysfunction, Cholestasis,
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