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Prenatal features of Noonan syndrome
被引:0
|作者:
Nisbet, DL
Griffin, DR
Chitty, LS
机构:
[1] Inst Child Hlth, Dept Clin Genet, London WC1N 1EH, England
[2] Univ Coll, Obstet Hosp, Fetal Med Unit, London WC1E 6AU, England
[3] Watford Gen Hosp, Dept Obstet & Gynaecol, Watford WD3 5HB, England
关键词:
prenatal diagnosis;
Noonan syndrome;
nuchal oedema;
pleural effusion;
D O I:
10.1002/(SICI)1097-0223(199907)19:7<642::AID-PD610>3.0.CO;2-1
中图分类号:
Q3 [遗传学];
学科分类号:
071007 ;
090102 ;
摘要:
We report six cases of Noonan syndrome which presented prenatally with sonographic abnormalities. These included increased nuchal fluid, short femora, pleural effusions, hydrops, cardiac and renal abnormalities. A review of all cases of Noonan syndrome seen at two regional genetics centres confirms the association with these sonographic abnormalities. These cases demonstrate the diversity of prenatal presentation of Noonan syndrome and highlight the need to consider this diagnosis, particularly when faced with a fetus with a normal karyotype and varying degrees of oedema or hydrops, with a short femur length. Copyright (C) 1999 John Wiley & Sons, Ltd.
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页码:642 / 647
页数:6
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