PRENATAL ULTRASONOGRAPHIC DIAGNOSIS OF RADIAL-RAY REDUCTION MALFORMATIONS

被引:28
作者
BRONS, JTJ
VANDERHARTEN, HJ
VANGEIJN, HP
WLADIMIROFF, JW
NIERMEIJER, MF
LINDHOUT, D
STUART, PA
MEIJER, CJLM
ARTS, NFT
机构
[1] FREE UNIV AMSTERDAM HOSP,DEPT PATHOL,AMSTERDAM,NETHERLANDS
[2] UNIV HOSP DIJKZIGT,DEPT OBSTET & GYNECOL,ROTTERDAM,NETHERLANDS
[3] UNIV HOSP DIJKZIGT,DEPT CLIN GENET,ROTTERDAM,NETHERLANDS
关键词
Congenital limb defect; Radial aplasia; Radial hypoplasia; Skeletal dysostosis; Ultrasonography;
D O I
10.1002/pd.1970100502
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
Radial‐ray reduction malformations (RRRMs) may occur isolated or in association with other anomalies. The data of seven fetuses born with RRRMs were collected. Six fetuses had associated lethal abnormalities of the central nervous system, urogenital system, and/or heart, detected by ultrasound. In five cases, it was possible to establish the precise diagnosis, enabling an informed prognosis and subsequent genetic counselling. The diagnoses were: Edwards syndrome (n=3), VACTERL association (n=1), and Poland‐Moebius‐like complex (n= 1). In two cases, a complete diagnosis was not possible because of inadequate evaluation of these fetuses before and/or after birth. A proposal is given for the diagnostic approach for infants with RRRMs detected in the antenatal period by means of ultrasonography. Copyright © 1990 John Wiley & Sons, Ltd.
引用
收藏
页码:279 / 288
页数:10
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