Occipital encephalocele and MURCS association: Case report and review of central nervous system anomalies in MURCS patients

被引:0
作者
Lin, HJ
Cornford, ME
Hu, B
Rutgers, JKL
Beall, MH
Lachman, RS
机构
[1] UNIV CALIF LOS ANGELES,LOS ANGELES CTY HARBOR MED CTR,DEPT PATHOL,TORRANCE,CA 90502
[2] UNIV CALIF LOS ANGELES,LOS ANGELES CTY HARBOR MED CTR,DEPT OBSTET & GYNECOL,TORRANCE,CA 90502
[3] UNIV CALIF LOS ANGELES,LOS ANGELES CTY HARBOR MED CTR,DEPT RADIOL,TORRANCE,CA 90502
来源
AMERICAN JOURNAL OF MEDICAL GENETICS | 1996年 / 61卷 / 01期
关键词
encephalocele; MURCS association; paraxial mesoderm;
D O I
10.1002/(SICI)1096-8628(19960102)61:1<59::AID-AJMG11>3.0.CO;2-V
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
The combination of MURCS association (Mullerian duct and renal agenesis, upper limb and rib anomalies) and occipital encephalocele occurred in a stillborn girl of 41 weeks gestation, The malformations are compatible with a defect in the organization of the paraxial mesoderm that gives rise to occipital, cervical, and thoracic somites and adjoining intermediate mesoderm. These structures contribute to the occipital bone, cervical spine, upper limbs, and urogenital system, Brain imaging may be useful in assessing MURCS patients, if cranial malformations prove to be clinically important in these individuals. (C) 1996 Wiley-Liss, Inc.
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页码:59 / 62
页数:4
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