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May-Hegglin异常一家系六例 被引量:3

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摘要 先证者(Ⅳ1)患儿,男,2岁,系第1胎第1产,足月顺产,生后无窒息,生后头面部散在出血点,伴脐部渗血,不伴有呕血、便血。查体:T36.7℃,P132次/分,血压正常,发育正常,营养中等,神志清,反应敏锐,皮肤巩膜无黄染,头面部散在出血点,浅表淋巴结未触及肿大,心肺听诊未见异常,肝脾未触及肿大,
出处 《中华医学遗传学杂志》 CAS CSCD 北大核心 2010年第2期239-239,共1页 Chinese Journal of Medical Genetics
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  • 1Sirachainan N, Komwilaisak P, Kitamura K, et al. The first two of MYH9 disorders in Thailand: an international collaborative study[J]. Ann Hematol, 2015, 94(4):707-709.
  • 2Landi D, Lockhart E, Miller SE, et al. Report of a young girl with MYH9 mutation and review of the literature[J]. J Pediatr Hematol Oncol, 2012, 34(7):538-540.
  • 3Eiehel Y, Tormos LM, Squires JE. Preoperative use of platelets in a 6-year-old with acute appendicitis and a myosin heavy ehain 9 - related disorder: a case report and review of literature[J]. Transfusion, 2016, 56(2):349-353.
  • 4Hao J, Kunishima S, Guo X, et al. A large family with MYH9 disorder caused by E1841 K mutation suffering from serious kidney and hearing impairment and cataracts[J]. Ann Hematol, 2012, 91(7):1147-1148.
  • 5Pecci A, Verver E J, Schlegel N, et al. Cochlear implantation is safe and effective in patients with MYH9-related disease[J]. Orphanet J Rare Dis, 2014, 9:100.
  • 6Fatima S. May-Hegglin anomaly: rare entity with review of literature[J]. Indian J Hematol Blood Transfus, 2012, 28(1):58-60.
  • 7Hussein BA, Gomez K, Kadir RA. May-Hegglin anomaly and pregnancy: a systematic review[J]. Blood Coagul Fibrinolysis, 2013, 24(5):554-561.
  • 8Ruhoy SM, Yates A. Macrothrombocytopenia with dohle body- like granulocyte inclusions: a case report of May-Hegglin anomaly in a 33-year-old white woman with an update on the molecular findings of MYH9-related disease[J]. Lab Med, 2016, 47(3): 246- 250.
  • 9张之南.血液病诊断及疗效标准[M],2版.北京:人民卫生出版社,2011:9.
  • 10Garcfa Vallejo G, Cabellos M, Kabiri M, et al. Anaesthetic implications in a pregnant patient with an extreme thrombocytopenia due to a May-Hegglin anomaly: general o regional anaesthesia?[J]. Rev Esp Anestesiol Reanim, 2014, 61(8): 460-465.

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