First-trimester diagnosis of hydrolethalus syndrome in a Chinese family

被引：4
|
作者：
Chan, BCP [1 ]
Shek, TWH
Lee, CP
机构：
[1] Univ Hong Kong, Tsan Yuk Hosp, Dept Obstet & Gynaecol, Prenatal Diagnosis & Counselling Dept, Hong Kong, Hong Kong, Peoples R China
[2] Univ Hong Kong, Queen Mary Hosp, Dept Pathol, Hong Kong, Hong Kong, Peoples R China
来源：
PRENATAL DIAGNOSIS | 2004年 / 24卷 / 08期
关键词：
hydrolethalus; prenatal diagnosis; first trimester; Chinese;
D O I：
10.1002/pd.870
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
We report a case resembling hydrolethalus syndrome in a Chinese family. Fetal polydactyly, syndactyly, encephalocele and cardiac malformation were detected on ultrasound examination at 12 weeks' gestation. Termination of pregnancy was performed, and postmortem examination confirmed the findings. This is the first report of a first-trimester prenatal diagnosis of hydrolethalus syndrome in the Chinese population. Copyright (C) 2004 John Wiley Sons, Ltd.
引用
收藏
页码：587 / 590
页数：4
相关论文
共 50 条
  • [41] Pitfalls in First-Trimester Bleeding
    Promes, Susan B.
    Nobay, Flavia
    EMERGENCY MEDICINE CLINICS OF NORTH AMERICA, 2010, 28 (01) : 219 - +
  • [42] Prenatal Diagnosis by minimally invasive first-trimester transcervical sampling is unreliable
    Overton, TG
    Lighten, AD
    Fisk, NM
    Bennett, PR
    AMERICAN JOURNAL OF OBSTETRICS AND GYNECOLOGY, 1996, 175 (02) : 382 - 387
  • [43] First-trimester prenatal diagnosis of pyruvate kinase deficiency in an Indian family with the pyruvate kinase-Amish mutation
    Kedar, P. S.
    Nampoothiri, S.
    Sreedhar, S.
    Ghosh, K.
    Shimizu, K.
    Kanno, H.
    Colah, R. B.
    GENETICS AND MOLECULAR RESEARCH, 2007, 6 (02) : 470 - 475
  • [44] The effect of cigarette or sheesha smoking on first-trimester markers of Down syndrome
    Ardawi, M. S. M.
    Nasrat, H. A.
    Rouzi, A. A.
    Qari, M. H.
    Al-Qahtani, M. H.
    Abuzenadah, A. M.
    BJOG-AN INTERNATIONAL JOURNAL OF OBSTETRICS AND GYNAECOLOGY, 2007, 114 (11) : 1397 - 1401
  • [45] First-Trimester Diagnosis of Conjoined Twins Aided by Spatiotemporal Image Correlation
    Varma, Suraj Kumar
    Waalwyk, Karen
    Menahem, Samuel
    Meagher, Simon
    JOURNAL OF CLINICAL ULTRASOUND, 2011, 39 (09) : 527 - 529
  • [46] Turner Syndrome Presenting With Echogenic Fetal Lungs on First-Trimester Sonography
    Nassar, Fatema
    DeFranco, Emily
    JOURNAL OF ULTRASOUND IN MEDICINE, 2015, 34 (02) : 355 - 357
  • [47] Does vaginal bleeding influence first-trimester markers for Down syndrome?
    Heinig, J.
    Steinhard, J.
    Schmitz, R.
    Nofer, J. R.
    Witteler, R.
    Mosel, A.
    Ahrens, A.
    Kiesel, L.
    Klockenbusch, W.
    PRENATAL DIAGNOSIS, 2007, 27 (04) : 312 - 316
  • [48] Sirenomelia apus after trimethoprim exposure: First-trimester ultrasound diagnosis-a case report
    Dosedla, Erik
    Kalafusova, Michaela
    Calda, Pavel
    JOURNAL OF CLINICAL ULTRASOUND, 2012, 40 (09) : 594 - 597
  • [49] INCREASED FIRST-TRIMESTER NUCHAL TRANSLUCENCY AS A PRENATAL MANIFESTATION OF SMITH-LEMLI-OPITZ-SYNDROME
    HYETT, JA
    CLAYTON, PT
    MOSCOSO, G
    NICOLAIDES, KH
    AMERICAN JOURNAL OF MEDICAL GENETICS, 1995, 58 (04): : 374 - 376
  • [50] First-Trimester Diagnosis of Agnathia-Otocephaly Complex: A Series of 4 Cases and Review of the Literature
    Rodriguez, Nadiezhda
    Casasbuenas, Alexandra
    Andreeva, Elena
    Odegova, Natalia
    Wong, Amy E.
    Sepulveda, Waldo
    JOURNAL OF ULTRASOUND IN MEDICINE, 2019, 38 (03) : 805 - 809
12345