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.
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页码：477 / 481
页数：5
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