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ARC syndrome has a wider clinical spectrum than previously thought. Its clinical features cover abnormal morphology, abnormal platelets, recurrent fevers, diarrhoea, and failure to thrive, as well as the classic picture of arthrogryposis, renal tubular acidosis, and cholestasis.
ARC syndrome is associated with consanguinity and is generally supposed to be a rare autosomal disorder. Since the first description in 1973, 11 pedigrees have been reported. Now observations arc available from a review of six further cases from three paediatric centres in the UK over 10 years.
In common with previous findings, clinical features proved somewhat variable. However, …