期刊文献+

体外受精-胚胎移植受孕双胎之一Beckwith-Wiedemann综合征一例 被引量:1

原文传递
导出
摘要 患儿女,1 d,因“早产儿,生后发现脐部异常”于2014年1月12日收入复旦大学附属儿科医院。患儿系第1胎第1产,体外受精-胚胎移植受孕,双卵双胎之大。孕母妊娠期B超提示“胎儿脐部膨出”,因“反复阴道流血”多次保胎治疗,于妊娠35周剖宫产娩出。羊水清,脐带、胎盘无异常,无宫内窘迫及窒息抢救史,Apgar评分1和5 min均为10分,出生体重2300 g。患儿生后未开奶,无发热、气促、发绀、呕吐及抽搐等。否认遗传性疾病家族史,父母非近亲婚配。患儿同胎之小女,出生体重1940 g,体格检查无异常。患儿体格检查:头围30 cm,胸围28 cm,腹围27 cm,身长44 cm,体重2110 g。
出处 《中华围产医学杂志》 CAS CSCD 2015年第4期301-304,共4页 Chinese Journal of Perinatal Medicine
基金 上海市科委重大课题(11DZ1950302) 上海市卫生和计划生育委员会重要疾病联合攻关项目(沪卫计科教2013-018)
  • 相关文献

参考文献18

  • 1谢新宝,许丹,刘仁超,董晨彬,安宇,俞蕙,张婷.Beckwith-Wiedemann综合征1例并文献复习[J].中国循证儿科杂志,2013,8(1):50-54. 被引量:9
  • 2李晶晶,宋红,宋焕清.试管婴儿双胎之一患Beckwith-Wiedemann综合征1例报告[J].山东医药,2013,53(31):107-108. 被引量:2
  • 3Weksberg R, Shuman C, Beckwith JB. Beckwith-Wiedemann syndrome[J]. Eur J Hum Genet, 2010, 18(1):8-14.
  • 4Choufani S, Shuman C, Weksberg R. Beckwith-Wiedemann syndrome[J]. Am J Meal Genet C Semin Med Genet, 2010, 154C(3):343-354.
  • 5DeBaun MR, Niemitz EL, Feinberg AP. Association of in vitro fertilization with Beckwith-Wiedemann syndrome and epigenetic alterations of LIT1 and H19[J]. Am J Hum Genet, 2003, 72(1):156-160.
  • 6Gicquel C, Gaston V, Mandelbaum J, et al. In vitro fertilization may increase the risk of Beckwith-Wiedemann syndrome related to the abnormal imprinting of the KCN 10T gene[J]. Am J Hum Genet, 2003, 72(5):1338-1341.
  • 7Maher ER, Brueton LA, Bowdin SC, et al. Beckwith- Wiedemann syndrome and assisted reproduction technology (ART) [J]. J Med Genet, 2003, 40(1):62-64.
  • 8Halliday J, Oke K, Breheny S, et al. Beckwith Wiedemann syndrome and IVF: a case-control study[J]. Am J Hum Genet, 2004, 75(3):526-528.
  • 9Market-Velker BA, Zhang L, Magri LS, et al. Dual effects of superovulation: loss of maternal and paternal imprinted methylation in a dose-dependent manner[J], Hum Mol Genet, 2010, 19(1):36-51.
  • 10Chang AS, Moley KH, Wangler M, et al. Association between Beckwith-Wiedemann syndrome and assisted reproductive technology: a case series of 19 patlents[J]. Fertil Steril, 2005, 83(2):349-354.

二级参考文献38

  • 1梁红,王庆杰,陈净,郭静.Beckwith-Wiedemann综合征一例[J].中华儿科杂志,2005,43(12):945-946. 被引量:3
  • 2Wilkins-Haug L, Porter A, Hawley P, et al. Isolated fetal ompha- locele, Beckwith Wiedemann syndrome, and assisted reproductive technologies[J]. Birth Defects Res A Clin Mol Teratol, 2009,85 ( 1 ) :58-62.
  • 3Beckwith JB,Perrin EV. In situ neuroblastomas:a contribution to the natural history of neural crest tumors[J].American Journal of Pathology,1963.1089-1104.
  • 4Wiedemann HR. Familial malformation complex with umbilical hernia and macroglossia-A "New syndrome"[J].Journal de Genetique Humaine,1964.223-232.
  • 5Choufani S,Shuman C,Weksberg R. Beckwith-Wiedemann syndrome[J].American Journal of Medical Genetics Part C:Seminars in Medical Genetics,2010,(03):343-354.
  • 6Weksberg R,Shuman C,Beckwith JB. Beckwith-Wiedemann syndrome[J].European Journal of Human Genetics,2010,(01):8-14.
  • 7DeBaun MR,Niemitz EL,Feinberg AP. Association of in vitro fertilization with Beckwith-Wiedemann syndrome and epigenetic alterations of LIT1 and H19[J].American Journal of Human Genetics,2003.156-160.
  • 8Strawn EY,Jr Bick D,Swanson A. Is it the patient or the IVF?. Beckwith-Wiedemann syndrome in both spontaneous and assisted reproductive conceptions[J].Fertility and Sterility,2010,(02):754.e751-754.e752.
  • 9Ping AJ,Reeve AE,Law DJ. Genetic linkage of Beckwith-Wiedemann syndrome to 1 lp15[J].American Journal of Human Genetics,1989,(05):720-723.
  • 10Hirasawa R,Feil R. Genomic imprinting and human disease[J].Essays in Biochemistry,2010.187-200.

共引文献9

同被引文献8

引证文献1

二级引证文献4

相关作者

内容加载中请稍等...

相关机构

内容加载中请稍等...

相关主题

内容加载中请稍等...

浏览历史

内容加载中请稍等...
;
使用帮助 返回顶部