Beckwith-Wiedemann综合征的产前超声诊断研究
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摘要
目的探讨Beckwith-Wiedemann综合征(BWS)产前超声诊断特点及胎儿预后。方法回顾分析我院及文献报道产前发现异常的BWS病例。结果我院的2例BWS病例均有巨舌、巨体、脐疝的典型超声特征。文献报道8例存在产前异常的BWS病例部分具有上述特征。结论产前超声发现脐疝、巨体、羊水多等表现,需要仔细扫查舌部避免漏诊BWS。
Objective To investigate the prenatal ultrasonographic features and fetal prognosis of BWS.Methods The clinical data of BWS cases from our hospital and literature with prenatal ultrasound abnormalitis were retrospectively analyzed.Results Two cases of BWS diagnosed in our hospital were both found with exomphalos,macroglossia,and gigantism.A total of 8 cases were reported in the literature,in which prenatal abnormalities above were found.Conclusions Careful ultrasound scan for macroglossia is needed to avoid omission diagnosis when polyhydramnios,exomphalos,and gigantism are found.
Objective To investigate the prenatal ultrasonographic features and fetal prognosis of BWS.Methods The clinical data of BWS cases from our hospital and literature with prenatal ultrasound abnormalitis were retrospectively analyzed.Results Two cases of BWS diagnosed in our hospital were both found with exomphalos,macroglossia,and gigantism.A total of 8 cases were reported in the literature,in which prenatal abnormalities above were found.Conclusions Careful ultrasound scan for macroglossia is needed to avoid omission diagnosis when polyhydramnios,exomphalos,and gigantism are found.
引文
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[2]李晓莺,律玉强,高敏,等.两例Beckwith-Wiedemann综合征的遗传学分析[J].中华医学遗传学杂志,2017,(6):831-834.
[3]WEKSBERG R,SHUMAN C,BECKWITH J B.Beckwithwiedemann syndrome[J].Eur J Hum Genet,2010,18(1):8-14.
[4]VERMEIDEN J P 1,BERNARDUS R E.Are imprinting disorders more prevalent after human in vitro fertilization or intracytoplasmic sperm injection[J].Fertil teril,2013,99(3):642-651.
[2]李晓莺,律玉强,高敏,等.两例Beckwith-Wiedemann综合征的遗传学分析[J].中华医学遗传学杂志,2017,(6):831-834.
[3]WEKSBERG R,SHUMAN C,BECKWITH J B.Beckwithwiedemann syndrome[J].Eur J Hum Genet,2010,18(1):8-14.
[4]VERMEIDEN J P 1,BERNARDUS R E.Are imprinting disorders more prevalent after human in vitro fertilization or intracytoplasmic sperm injection[J].Fertil teril,2013,99(3):642-651.