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Case Reports
. 2017;59(4):487-490.
doi: 10.24953/turkjped.2017.04.019.

ARC syndrome

Mehmet Mutlu  1 , Yakup Aslan  1 , Filiz Aktürk-Acar  1 , Murat Çakır  2 , Erol Erduran  3 , Mukaddes Kalyoncu  4
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Free article
Case Reports

ARC syndrome

Mehmet Mutlu et al. Turk J Pediatr. 2017.
Free article

Abstract

Mutlu M, Aslan Y, Aktürk-Acar F, Çakır M, Erduran E, Kalyoncu M. ARC syndrome. Turk J Pediatr 2017; 59: 487-490. Arthrogryposis-renal dysfunction-cholestasis (ARC) is an autosomal recessive multisystem disorder characterized by arthrogryposis, renal tubular dysfunction and neonatal cholestasis with low gamma glutamyl transpeptidase activity. Most of the mutations in ARC syndrome are associated with the vacuolar protein sorting 33B (VPS33B) gene on chromosome 15q26.1. Herein, we report a female newborn with ARC syndrome caused by homozygous mutations in VPS33B [IVS1-2A > C (c.97-2A > C)].

Keywords: arthrogryposis; cholestasis; neonate; renal dysfunction.

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