The Turkish Journal of Pediatrics 2017 , Vol 59 , Num 4
ARC syndrome
Mehmet Mutlu 1 ,Yakup Aslan 1 ,Filiz Aktürk-Acar 1 ,Murat Çakır 2 ,Erol Erduran 3 ,Mukaddes Kalyoncu 4
1 Divisions of Neonatology, Karadeniz Technical University, Faculty of Medicine, Trabzon, Turkey
2 Divisions of Pediatric Gastroenterology Hepatology and Nutrition, Karadeniz Technical University, Faculty of Medicine, Trabzon, Turkey
3 Divisions of Pediatric Hematology and Oncology, Karadeniz Technical University, Faculty of Medicine, Trabzon, Turkey
4 Divisions of Pediatric Nephrology and Rheumatology, Karadeniz Technical University, Faculty of Medicine, Trabzon, Turkey
DOI : 10.24953/turkjped.2017.04.019 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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