PENTALOGY-OF-CANTRELL AND ASSOCIATED MIDLINE ANOMALIES - A POSSIBLE VENTRAL MIDLINE DEVELOPMENTAL FIELD

被引：113

作者：

CARMI, R

BOUGHMAN, JA

机构：

[1] UNIV MARYLAND, DEPT PEDIAT, BALTIMORE, MD 21201 USA

[2] UNIV MARYLAND, DEPT EPIDEMIOL & PREVENT MED, BALTIMORE, MD 21201 USA

[3] BEN GURION UNIV NEGEV, SOROKA MED CTR, CLIN GENET UNIT, IL-84105 BEER SHEVA, ISRAEL

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS | 1992年 / 42卷 / 01期

关键词：

PENTALOGY-OF-CANTRELL; MIDLINE DEVELOPMENTAL FIELD; CLEFT LIP AND PALATE; NEURAL TUBE DEFECTS; ECTOPIA CORDIS;

D O I：

10.1002/ajmg.1320420118

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Five cases of the Pentalogy of Cantrell (PC), ascertained through the Baltimore-Washington population-based study of infants with congenital cardiovascular malformations, represent a regional prevalence of 5.5/1 million liveborn infants for this disorder. Three of these patients had cleft lip with or without palate. Review of the reported literature of the Pentalogy of Cantrell and various combinations of the anomalies within the spectrum of this pentad suggests that the PC defines a specific midline ventral developmental field. Cleft lip with or without cleft palate and encephalocele tend to specifically associate with ventral midline anomalies within the spectrum of PC. These associations might either illustrate the previously observed tendency of specific occurrence of certain combinations of midline defects or represent defined subunits of the midline developmental field.

引用

页码：90 / 95

页数：6