ARC syndrome (OMIM 208085) is an autosomal recessive multisystem disorder characterized by neurogenic arthrogryposis multiplex congenita, renal tubular dysfunction and neonatal cholestasis with bile duct hypoplasia and low gamma glutamyl transpeptidase (gGT) activity.Platelet dysfunction is common.
Parameters showing a significant difference between BA (n = 166) and non-BA (n = 316) patients were analyzed by logistic regression to predict the occurrence of BA, and then a nomogram scoring system was designed and validated in another cohort that included 190 cases of NC.A prediction diagnostic criterion with parameters including direct bilirubin, total bilirubin, globulin, albumin, gamma glutamyl transpeptidase, cholesterol, total bile acid, hepatobiliary scintigraphy, birth weight, and stool color was established; the sensitivity and specificity of this diagnostic criterion was 89% and 84%, respectively.