伯纳德-索利尔综合征：来自巴基斯坦的一例病例报告。
Bernard Soulier syndrome: A case report from Pakistan.
作者信息
Effendi Iqra, Nadeem Ahsan, Sarfraz Sara, Shahid Mubasshar, Farooq Minaam, Anand Ayush
机构信息
CMH Lahore Medical College and Institute of Dentistry Lahore Pakistan.
Rashid Latif Medical College Lahore Pakistan.
出版信息
Clin Case Rep. 2023 Jul 30;11(8):e7767. doi: 10.1002/ccr3.7767. eCollection 2023 Aug.
Abstract
Bernard Soulier Syndrome should be suspected in patients with bleeding disorder symptoms and significant family history, where consanguineous marriages are common. Diagnosis can be confirmed using a ristocetin test and a peripheral blood smear.
摘要
对于有出血性疾病症状且有明显家族史（近亲结婚常见）的患者，应怀疑患有伯纳德-索利尔综合征。可通过瑞斯托霉素试验和外周血涂片来确诊。
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本文引用的文献
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Consanguineous marriages and their association with women's reproductive health and fertility behavior in Pakistan: secondary data analysis from Demographic and Health Surveys, 1990-2018.巴基斯坦血缘婚姻及其与妇女生殖健康和生育行为的关系：1990-2018 年人口与健康调查的二次数据分析。
BMC Womens Health. 2022 Apr 14;22(1):118. doi: 10.1186/s12905-022-01704-2.
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Bernard-Soulier syndrome or idiopathic thrombocytopenic purpura: A case series.伯纳德-索利尔综合征或特发性血小板减少性紫癜：病例系列
Caspian J Intern Med. 2020 Winter;11(1):105-109. doi: 10.22088/cjim.11.1.105.
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Bernard Soulier Syndrome: 10 years' experience at a tertiary care hospital.伯纳德-索利尔综合征：一家三级护理医院的10年经验
Pak J Med Sci. 2019;35(3):705-708. doi: 10.12669/pjms.35.3.980.
4
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5
Clinical phenotype in heterozygote and biallelic Bernard-Soulier syndrome--a case control study.杂合子和双等位基因 Bernard-Soulier 综合征的临床表型——病例对照研究。
Am J Hematol. 2015 Feb;90(2):149-55. doi: 10.1002/ajh.23891. Epub 2014 Nov 24.
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Bernard-Soulier syndrome: an update.伯纳德-苏利耶综合征：更新。
Semin Thromb Hemost. 2013 Sep;39(6):656-62. doi: 10.1055/s-0033-1353390. Epub 2013 Aug 8.
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