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- W2069197051 abstract "We aimed to describe abnormal platelet morphology and its clinical significance in infants who were diagnosed with arthrogryposis renal dysfunction and cholestasis (ARC) syndrome. We collected all of the cases of ARC syndrome referred to a single pediatric referral center. In all patients, platelet counts and analysis of platelet morphology were performed with peripheral blood smear specimens. Electron microscopy images were obtained to examine the ultrastructure of the platelets. Over the 12-year period, 12 cases of ARC syndrome were identified. The sex ratio (male:female) was 1:1. The median birth weight was 3.15 kg (range, 2.3 to 3.8 kg). Failure to thrive was observed in all the patients. The major cause of death was recurrent febrile illness and pneumonia. The median age at death was 8.9 months (range, 2.6 to 28.8 kg). Their median body weight at death was 3.1 kg (range, 2.6 to 6.0 kg). Close examination of their peripheral blood smear (n=11) specimens showed large, pale, agranular platelets similar to those seen in gray platelet syndrome. Electron microscopic images of the platelets (n=7) revealed a lack of alpha; granules. Agranular platelets are a common finding in ARC syndrome. Agranular platelets should be considered as a cardinal feature of ARC syndrome and can be useful as a noninvasive diagnostic marker for ARC syndrome." @default.
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- W2069197051 date "2010-05-01" @default.
- W2069197051 modified "2023-10-16" @default.
- W2069197051 title "Agranular Platelets as a Cardinal Feature of ARC Syndrome" @default.
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- W2069197051 doi "https://doi.org/10.1097/mph.0b013e3181c3a8d0" @default.
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