GREIG CEPHALOPOLYSYNDACTYLY SYNDROME

被引：24

作者：

DUNCAN, PA

KLEIN, RM

WILMOT, PL

SHAPIRO, LR

机构：

[1] WESTCHESTER CTY MED CTR,DIV RADIOL,VALHALLA,NY 10595

[2] LETCHWORTH VILLAGE DEV CTR,GENET LAB,THIELLS,NY

[3] NEW YORK MED COLL,DEPT PEDIAT,VALHALLA,NY 10595

[4] NEW YORK MED COLL,DEPT RADIOL,VALHALLA,NY 10595

[5] NEW YORK MED COLL,DEPT PATHOL,VALHALLA,NY 10595

来源：

AMERICAN JOURNAL OF DISEASES OF CHILDREN | 1979年 / 133卷 / 08期

关键词：

D O I：

10.1001/archpedi.1979.02130080058010

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

Based on the family presented and five others previously described, it can be concluded that the Grieg cephalopolysyndactyly syndrome is a fully penetrant autosomal dominant disease consisting of four variably expressed malformations: postaxial polydactyly (type B), preaxial polydactyly, syndactyly, and minor craniofacial abnormalities. This entity can be differentiated from other craniofacial-digital syndromes because of the absence of mental retardation, craniosynostosis, and brachydactyly. (Am J Dis Child 133:818-821, 1979. © 1979, American Medical Association. All rights reserved.

引用

页码：818 / 821

页数：4

共 16 条

[1]

GARN SM, 1972, RADIOLOGY, V105, P375, DOI 10.1148/105.2.375

[2]

GNAMEY D, 1972, J GENET HUM, V19, P299

[3] A FAMILY WITH POLYSYNDACTYLY AND OTHER ANOMALIES [J].