PRENATAL-DIAGNOSIS OF THROMBOCYTOPENIA ABSENT RADIUS SYNDROME BY ULTRASOUND AND CORDOCENTESIS

被引：13
|
作者：
DONNENFELD, AE
WISEMAN, B
LAVI, E
WEINER, S
机构：
[1] PENN HOSP,DEPT OBSTET & GYNECOL,MATERNAL FETAL MED SECT,PHILADELPHIA,PA 19107
[2] PENN HOSP,DEPT PATHOL,PHILADELPHIA,PA 19107
[3] MED COLL PENN,DEPT OBSTET & GYNECOL,PHILADELPHIA,PA 19129
来源：
PRENATAL DIAGNOSIS | 1990年 / 10卷 / 01期
关键词：
Cordocentesis Phocomelia; Prenatal diagnosis; Thrombocytopenia absent radius syndrome;
D O I：
10.1002/pd.1970100106
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
The prenatal diagnosis of thrombocytopenia absent radius (TAR) syndrome, utilizing ultrasound and cordocentesis, is described. To our knowledge, this represents the first prenatal diagnosis of this condition in an index case. The diagnostic evaluation of a fetus with upper extremity limb reduction defects is discussed. Copyright © 1990 John Wiley & Sons, Ltd.
引用
收藏
页码：29 / 35
页数：7
相关论文
共 50 条
  • [41] PRENATAL-DIAGNOSIS OF GORLIN SYNDROME
    BIALER, MG
    GAILANI, MR
    MCLAUGHLIN, JA
    PETRIKOVSKY, B
    BALE, AE
    LANCET, 1994, 344 (8920): : 477 - 477
  • [42] PRENATAL-DIAGNOSIS OF SLO SYNDROME
    GELMANKOHAN, Z
    CHEMKE, J
    AMERICAN JOURNAL OF MEDICAL GENETICS, 1995, 56 (03): : 288 - 288
  • [43] PRENATAL-DIAGNOSIS OF MECKEL SYNDROME
    FRYNS, JP
    VANDENBERGHE, K
    VANASSCHE, FA
    CASSIMAN, JJ
    VANDENBERGHE, H
    JOURNAL DE GENETIQUE HUMAINE, 1980, 28 (04): : 89 - 94
  • [44] PRENATAL-DIAGNOSIS OF THE SECKEL SYNDROME
    MAJOORKRAKAUER, D
    WLADIMIROFF, JW
    STEWART, PA
    HARTEN, JJ
    NIERMEIJER, MF
    AMERICAN JOURNAL OF MEDICAL GENETICS, 1986, 25 (04): : 752 - 752
  • [45] PRENATAL-DIAGNOSIS OF HUNTER SYNDROME
    BACH, G
    ZLOTOGORA, J
    CLINICAL GENETICS, 1985, 28 (05) : 412 - 412
  • [46] PRENATAL-DIAGNOSIS OF ROBERTS SYNDROME
    HIRSCHHORN, K
    KAFFE, S
    PRENATAL DIAGNOSIS, 1992, 12 (11) : 976 - 976
  • [47] PRENATAL-DIAGNOSIS OF POLYSPLENIA SYNDROME
    CHITAYAT, DA
    LAU, AE
    HALL, JG
    WILSON, RD
    PEDIATRIC RESEARCH, 1987, 21 (04) : A225 - A225
  • [48] PRENATAL-DIAGNOSIS OF COCKAYNES SYNDROME
    LEHMANN, AR
    FRANCIS, AJ
    GIANNELLI, F
    LANCET, 1985, 1 (8427): : 486 - 488
  • [49] PRENATAL-DIAGNOSIS OF JEUNE SYNDROME
    ELEJALDE, BR
    DEELEJALDE, MM
    PANSCH, D
    AMERICAN JOURNAL OF MEDICAL GENETICS, 1985, 21 (03): : 433 - 438
  • [50] OMPHALOCELE - EARLY PRENATAL-DIAGNOSIS BY ULTRASOUND
    YOUNGBLOOD, JP
    FRANKLIN, DW
    STEIN, RT
    JOURNAL OF CLINICAL ULTRASOUND, 1983, 11 (06) : 339 - 341
12345