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We report a case of ARC syndrome with arthrogryposis multiplex congenita, renal tubular insufficiency and cholestasis. The Patient presented in the early neonatal period with micrognathia, low set ears, high arched palate, multiple joint contracture, conjugated hyperbilirubinemia and failure to thrive. He died at the age of 1 month despite medical therapy. Findings of renal tubular insufficiency included persistent renal... |
