Article
ARC syndrome: an expanding range of phenotypes.
Archives of disease in childhood - 1 Nov 2001
Eastham K M, McKiernan P J, Milford D V, Ramani P, Wyllie J, van't Hoff W, Lynch S A, Morris A A
Abstract excerpt
AIM: To describe the clinical phenotype in infants with ARC syndrome, the association of arthrogryposis, renal tubular acidosis, and cholestasis. METHODS: The medical records for six patients with ARC syndrome were reviewed, presenting over 10 years to three paediatric referral centres. RESULTS: All patients had the typical pattern of arthrogryposis. Renal Fanconi syndrome was present in all but one patient, who...
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