Prenatal Diagnosis of Lissencephaly: A Case Report

被引：4
|
作者：
Aslan, Halil [1 ]
Gungorduk, Kemal [2 ]
Yildirim, Dogukan [2 ]
Aslan, Oguz [2 ]
Yildirim, Gokhan [2 ]
Ceylan, Yavuz [2 ]
机构：
[1] Bakirkoy Matern & Childrens Teaching Hosp, Dept Perinatol, Istanbul, Turkey
[2] Istanbul Bakirkoy Matern & Children Res Hosp, Dept Obstet & Gynecol, Istanbul, Turkey
来源：
JOURNAL OF CLINICAL ULTRASOUND | 2009年 / 37卷 / 04期
关键词：
lissencephaly; prenatal diagnosis; Miller-Dieker syndrome; ultrasonography; NEURONAL MIGRATION; DIEKER-SYNDROME; MILLER-DIEKER; ULTRASOUND; CNS;
D O I：
10.1002/jcu.20572
中图分类号：
O42 [声学];
学科分类号：
070206 ; 082403 ;
摘要：
We describe the abnormal sonographic findings in the brain of a 26-week fetus, which increased the Suspicion of isolated lissencephaly. Follow-up ultrasound examination and MRI depicted diffuse cortical agyria, microcephaly, hypotelorism, and proptosis. Cordocentesis showed a normal 46,XY karyotype, and no short arm deletion of chromosome 17 was detectable. Postmortem examination confirmed complete agyria of the whole fetal brain. Early detection of fetal microcephaly and other cranial abnormalities can be a sign of isolated lissencephaly and need to be evaluated carefully with ultrasound and MRI for detection of abnormal cortical development of the fetal brain. (C) 2009 Wiley Periodicals, Inc. J Clin Ultrasound 37:245-248, 2009; Published online in Wiley InterScience (www.interscience.wiley.com). DOI: 10.1002/jcu.20572
引用
收藏
页码：245 / 248
页数：4
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