PRENATAL-DIAGNOSIS OF AUTOSOMAL RECESSIVE OSTEOPETROSIS, INFANTILE TYPE, BY X-RAY EVALUATION

被引：0

作者：

OGUR, G

OGUR, E

CELASUN, B

BASER, I

IMIRZALIOGLU, N

OZTURK, T

ALEMDAROGLU, A

机构：

[1] GATA MED FAC,DEPT RADIOL,ANKARA,TURKEY

[2] GATA MED FAC,DEPT PATHOL,ANKARA,TURKEY

[3] GATA MED FAC,DEPT OBSTET,ANKARA,TURKEY

来源：

PRENATAL DIAGNOSIS | 1995年 / 15卷 / 05期

关键词：

RECESSIVE OSTEOPETROSIS; PRENATAL DIAGNOSIS; X-RAY;

D O I：

暂无

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Prenatal diagnosis for infantile osteopetrosis was attempted during the third pregnancy of a first-cousin marriage whose family history revealed an affected previous child. At the 25th week of pregnancy, fetal X-ray evaluation revealed marked sclerosis of osteopetrotic bone and metaphyseal splaying and clubbing of both femurs. The pregnancy was terminated and repeated X-rays and histopathological examination of fetal bone (femur) confirmed the diagnosis.

引用

页码：477 / 481

页数：5

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