title: Haematological manifestations of arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome: a case report.
abstract: Arthrogryposis multiplex congenita, renal dysfunction, and cholestasis (ARC) syndrome is a rare, fatal, multisystem disorder. Bleeding problems, which occur spontaneously and post organ biopsies, have been reported in these patients. We report the case of an infant who had life-threatening spontaneous nasal bleeding. A detailed assessment of her platelet function and morphology is presented.
authors.affiliation: Department of Paediatrics, Faculty of Medicine, King Abdulaziz University and Hospital, Jeddah, Saudi Arabia. saadaho@hotmail.com
authors.forename: Omar I
authors.initials: OI
authors.lastname: Saadah
authors.forename: Bayan E
authors.initials: BE
authors.lastname: Bokhari
authors.forename: Taghreed M
authors.initials: TM
authors.lastname: Alshaeri
authors.forename: Wasil
authors.initials: W
authors.lastname: Jastaniah
mesh_terms: D001176:Arthrogryposis / Q000097:blood* / Q000150:complications / Q000503:physiopathology*; D016470:Bacteremia / Q000382:microbiology; D001777:Blood Coagulation; D001792:Blood Platelets / Q000473:pathology*; D002779:Cholestasis / Q000097:blood* / Q000150:complications / Q000503:physiopathology*; D004844:Epistaxis / Q000097:blood* / Q000150:complications; D004927:Escherichia coli Infections / Q000382:microbiology; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D010976:Platelet Count; D011552:Pseudomonas Infections / Q000382:microbiology; D051437:Renal Insufficiency / Q000097:blood* / Q000150:complications / Q000503:physiopathology*; D013203:Staphylococcal Infections / Q000382:microbiology