PRENATAL-DIAGNOSIS IN HOLOPROSENCEPHALY WITH POSTAXIAL POLYDACTYLY, CARDIOPATHY IN NORMAL KARYOTYPE

被引：2

作者：

SALAMANCA, A ^{[1
]}

PADILLA, MC ^{[1
]}

SABATEL, RM ^{[1
]}

MOTOS, MA ^{[1
]}

STEMPER, K ^{[1
]}

GONZALEZGOMEZ, F ^{[1
]}

机构：

[1] UNIV GRANADA,HOSP GYNAECOL,GRANADA,SPAIN

来源：

GEBURTSHILFE UND FRAUENHEILKUNDE | 1992年 / 52卷 / 12期

关键词：

D O I：

10.1055/s-2007-1023813

中图分类号：

R71 [妇产科学];

学科分类号：

100211 ;

摘要：

Holoprosencephaly is a malformation complex, in which the foetal forebrain (prosencephalon) fails to cleave. The aetiology of holoprosencephaly is heterogeneous. In the last years, a new malformation syndrome has been described, including holoprosencephaly, postaxial polydactyly, congenital heart defects and normal karyotype. In this report, a new case of this syndrome, prenatally diagnosed, is discussed, based on ultrasound and foetal blood sampling. The important implications are pointed out in relation to adequate genetic counselling.

引用

页码：783 / 785

页数：3

共 10 条

[1]

ANDRE S A, 1988, Journal de Genetique Humaine, V36, P463

[2]

CHERVENAK FA, 1984, OBSTET GYNECOL, V63, P115

[3] SONOGRAPHIC DIAGNOSIS OF HOLOPROSENCEPHALY IN THE 2ND TRIMESTER OF PREGNANCY [J].