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.
引用
收藏
页码:642 / 647
页数:6
相关论文
共 50 条
  • [41] Noonan syndrome
    Bajwa, Sukhminder Jit Singh
    Haldar, Rudrashish
    Kerr, Bronwyn
    Zenker, Martin
    ANASTHESIOLOGIE & INTENSIVMEDIZIN, 2016, 57 : S621 - S628
  • [42] NOONAN SYNDROME
    FRYNS, JP
    VANDERHAUWAERT, L
    VANDENBERGHE, H
    ACTA PAEDIATRICA BELGICA, 1977, 30 : 1 - 9
  • [43] THE NOONAN SYNDROME
    NEEBCHRUBASIK, S
    MINNE, H
    KERNER, W
    MUNCHENER MEDIZINISCHE WOCHENSCHRIFT, 1980, 122 (43): : 1508 - 1510
  • [44] THE NOONAN SYNDROME
    SANCHEZCASCOS, A
    EUROPEAN HEART JOURNAL, 1983, 4 (04) : 223 - 229
  • [45] NOONAN SYNDROME
    ALLANSON, JE
    JOURNAL OF MEDICAL GENETICS, 1987, 24 (01) : 9 - 13
  • [46] Noonan syndrome
    van der Burgt, Ineke
    ORPHANET JOURNAL OF RARE DISEASES, 2007, 2 (1)
  • [47] Noonan Syndrome
    Bhambhani, Vikas
    Muenke, Maximilian
    AMERICAN FAMILY PHYSICIAN, 2014, 89 (01) : 37 - 43
  • [48] Noonan syndrome
    Allanson, Judith E.
    AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS, 2007, 145C (03) : 274 - 279
  • [49] Noonan syndrome
    Yanagisawa, M
    ACTA PAEDIATRICA JAPONICA, 1996, 38 (01): : 75 - 75
  • [50] Noonan syndrome
    Turner, Anne M.
    JOURNAL OF PAEDIATRICS AND CHILD HEALTH, 2014, 50 (10) : E14 - E20