FALSE-NEGATIVE PRENATAL-DIAGNOSIS OF RESTRICTIVE DERMOPATHY

被引：18

作者：

HAMEL, BCJ

HAPPLE, R

STEYLEN, PM

KOLLEE, LAA

STEKHOVEN, JHS

NIJHUIS, JG

RAUSKOLB, R

ANTONLAMPRECHT, I

机构：

[1] UNIV HOSP NIJMEGEN,DEPT DERMATOL,6500 HB NIJMEGEN,NETHERLANDS

[2] UNIV HOSP NIJMEGEN,DEPT PEDIAT,6500 HB NIJMEGEN,NETHERLANDS

[3] UNIV HOSP NIJMEGEN,DEPT OBSTET & GYNECOL,6500 HB NIJMEGEN,NETHERLANDS

[4] ALBERT SCHWEITZER HOSP,DEPT GYNECOL,NORTHEIM,GERMANY

[5] UNIV HEIDELBERG,DEPT DERMATOL,INST ULTRASTRUCT RES SKIN,W-6900 HEIDELBERG,GERMANY

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS | 1992年 / 44卷 / 06期

关键词：

LETHAL SKIN DYSPLASIA; MORPHOLOGIC ABNORMALITIES; FETAL SKIN BIOPSIES;

D O I：

10.1002/ajmg.1320440622

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Restrictive dermopathy is a rare autosomal recessive lethal skin dysplasia. It has been assumed that the characteristic morphologic abnormalities should allow a reliable prenatal diagnosis on fetal skin biopsies at about 20 weeks pregnancy. We report on a false-negative prenatal diagnosis.

引用

页码：824 / 826

页数：3

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