PENTALOGY-OF-CANTRELL AND ECTOPIA CORDIS, A FAMILIAL DEVELOPMENTAL FIELD COMPLEX

被引：53

作者：

MARTIN, RA

CUNNIFF, C

ERICKSON, L

JONES, KL

机构：

[1] UNIV CALIF SAN DIEGO, MED CTR,DEPT PEDIAT,DIV DYSMORPHOL, 225 DICKINSON ST,H814B, SAN DIEGO, CA 92103 USA

[2] BALBOA NAVAL HOSP, DEPT PEDIAT, SAN DIEGO, CA USA

[3] UNIV ARKANSAS, DEPT PEDIAT, LITTLE ROCK, AR 72204 USA

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS | 1992年 / 42卷 / 06期

关键词：

PENTALOGY-OF-CANTRELL; ECTOPIA CORDIS; ANTERIOR DIAPHRAGMATIC HERNIA; MIDLINE; DEVELOPMENTAL FIELD; X-LINKED;

D O I：

10.1002/ajmg.1320420619

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

The association of sternal fusion defects with various cardiac, diaphragmatic, and anterior body wall defects represents a developmental field complex that includes the Pentalogy of Cantrell and ectopia cordis. No familial cases have been reported previously. We present 3 consecutively born brothers with extensive diaphragmatic defects, 2 who had the Pentalogy of Cantrell. One of the 2 also had ectopia cordis.

引用

页码：839 / 841

页数：3

共 20 条

[1]

BAKER ME, 1984, J ULTRAS MED, V3, P525

[2]

CANTRELL JR, 1958, SURG GYNECOL OBSTET, V107, P602

[3] FAMILIAL CONGENITAL DIAPHRAGMATIC DEFECT AND ASSOCIATED MIDLINE ANOMALIES - FURTHER EVIDENCE FOR AN X-LINKED MIDLINE GENE [J].