PRENATAL-DIAGNOSIS OF LISSENCEPHALY

被引:29
作者
SALTZMAN, DH
KRAUSS, CM
GOLDMAN, JM
BENACERRAF, BR
机构
[1] BRIGHAM & WOMENS HOSP,DEPT RADIOL,BOSTON,MA 02115
[2] HARVARD UNIV,SCH MED,DEPT GENET,HARVARD COMMUN HLTH PLAN,BOSTON,MA 02115
关键词
LISSENCEPHALY; ULTRASOUND;
D O I
10.1002/pd.1970110302
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
We report two cases of prenatal detection of lissencephaly by high-resolution ultrasound. The first case studied was referred for high-risk obstetrical management and serial antenatal ultrasounds because of a family history of lissencephaly in an unresolved chromosomal abnormality. Diagnosis of a smooth gyral pattern consistent with lissencephaly was made at 32 weeks' gestation. The second case was referred for prenatal ultrasound because of a size versus dates discrepancy. The ultrasound examination showed a smooth gyral pattern at 31.5 weeks. In light of this ultrasound finding, a fetal blood sample was obtained and a chromosomal abnormality reported, confirming the diagnosis. To our knowledge, these cases represent the first report of the sonographic prenatal diagnosis of cerebral agyria or lissencephaly.
引用
收藏
页码:139 / 143
页数:5
相关论文
共 11 条
[1]   MILLER-DIEKER SYNDROME - A DISORDER AFFECTING SPECIFIC PATHWAYS OF NEURONAL MIGRATION [J].
ALVAREZ, LA ;
YAMAMOTO, T ;
WONG, B ;
RESNICK, TJ ;
LLENA, JF ;
MOSHE, SL .
NEUROLOGY, 1986, 36 (04) :489-493
[2]  
BABCOCK DS, 1983, J ULTRAS MED, V2, P465
[3]   MILLER-DIEKER SYNDROME - LISSENCEPHALY AND MONOSOMY-17P [J].
DOBYNS, WB ;
STRATTON, RF ;
PARKE, JT ;
GREENBERG, F ;
NUSSBAUM, RL ;
LEDBETTER, DH .
JOURNAL OF PEDIATRICS, 1983, 102 (04) :552-558
[4]   SYNDROMES WITH LISSENCEPHALY .1. MILLER-DIEKER AND NORMAN-ROBERTS SYNDROMES AND ISOLATED LISSENCEPHALY [J].
DOBYNS, WB ;
STRATTON, RF ;
GREENBERG, F .
AMERICAN JOURNAL OF MEDICAL GENETICS, 1984, 18 (03) :509-526
[5]   UNBALANCED TRANSLOCATION (15-17)(Q13-P13.3) WITH APPARENT PRADER-WILLI SYNDROME BUT WITHOUT MILLER-DIEKER SYNDROME [J].
ELDER, FFB ;
NICHOLS, MM ;
HOOD, OJ ;
HARRISON, WR .
AMERICAN JOURNAL OF MEDICAL GENETICS, 1985, 20 (03) :519-524
[6]   FAMILIAL MILLER-DIEKER SYNDROME ASSOCIATED WITH PERICENTRIC-INVERSION OF CHROMOSOME-17 [J].
GREENBERG, F ;
STRATTON, RF ;
LOCKHART, LH ;
ELDER, FFB ;
DOBYNS, WB ;
LEDBETTER, DH .
AMERICAN JOURNAL OF MEDICAL GENETICS, 1986, 23 (04) :853-859
[7]  
McKusick VA, 1988, CATALOGS AUTOSOMAL D
[8]  
RAMIREZ RE, 1984, AM J NEURORADIOL, V5, P830
[9]   NEW CHROMOSOMAL SYNDROME - MILLER-DIEKER SYNDROME AND MONOSOMY 17P13 [J].
STRATTON, RF ;
DOBYNS, WB ;
AIRHART, SD ;
LEDBETTER, DH .
HUMAN GENETICS, 1984, 67 (02) :193-200
[10]  
TROUNCE JQ, 1986, DEV MED CHILD NEUROL, V28, P467