CRANIORACHISCHISIS-TOTALIS AND SIRENOMELIA

被引：15

作者：

RODRIGUEZ, JI ^{[1
]}

PALACIOS, J ^{[1
]}

机构：

[1] LA PAZ HOSP,DEPT PATHOL,MADRID,SPAIN

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS | 1992年 / 43卷 / 04期

关键词：

ANENCEPHALY; SIRENOMELIA; MESODERMAL DYSPLASIA; MIDLINE ABNORMALITIES;

D O I：

10.1002/ajmg.1320430416

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

We report on a male infant with craniorachischisis totalis and sirenomelia, an association that seems to have been observed only 5 times before. In addition to these anomalies, the patient had hypoplasia of the phalanges of the right thumb. The pattern of associated malformations in infants with anencephaly and sirenomelia is reviewed. This condition, which combines cephalic and caudal defects of the embryo, could be considered an example of the "axial mesodermal dysplasia spectrum" and may be related to the midline developmental field concept.

引用

页码：732 / 736

页数：5

共 24 条

[1]

BATAGGLIA S, 1954, FOL HERED PATHOL, V3, P197

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