New syndrome: Brain malformation, growth retardation, hypokinesia and polyhydramnios in two brothers

被引:0
|
作者
Holmes, LB
Schoene, WC
Benacerraf, BR
机构
[1] HARVARD UNIV,SCH MED,DEPT PEDIAT,BOSTON,MA 02115
[2] HARVARD UNIV,SCH MED,DEPT PATHOL,BOSTON,MA 02115
[3] HARVARD UNIV,SCH MED,DEPT OBSTET & GYNECOL,BOSTON,MA 02115
关键词
X-linked inheritance; brain abnormalities and hypokinesia;
D O I
暂无
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
We report two brothers who were born after pregnancies characterized by polyhydramnios and hypokinesia. Both had brain malformations (absence of corpus callosum in one; arhinencephaly in the other), telecanthus and narrow palpebral fissures. This family and several similar phenotypes reported only in affected brothers could reflect X-linked inheritance.
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页码:13 / 19
页数:7
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