Arthrogryposis, renal tubular dysfunction and cholestasis [ARC] syndrome: a case report

ABSTRACT

Arthrogryposis, renal tubular dysfunctions and chloestasis [ARC] syndrome is a rare multisystem, usually fatal, autosomal recessive disorder. Awareness of this syndrome is growing with more reported cases over the last three decades. Many previously reported cases with similar association are now labeled as ARC syndrome. Although the genetic mutation is recently recognized, the diagnosis still depends on the clinical findings. Our patient is the first case of ARC syndrome to be reported from Kuwait. To the best of our knowledge this is also the first report of an Egyptian family with two siblings of ARC syndrome