SPONDYLOCOSTAL DYSPLASIA AND NEURAL-TUBE DEFECTS

被引：44

作者：

GIACOIA, GP

SAY, B

机构：

[1] Department of Pediatrics, University of Oklahoma, College of Medicine, Tulsa, OK 74136

来源：

JOURNAL OF MEDICAL GENETICS | 1991年 / 28卷 / 01期

关键词：

D O I：

10.1136/jmg.28.1.51

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Spondylocostal dysplasia (Jarcho-Levin syndrome) comprises multiple malformations of the vertebrae and ribs coupled with a characteristic clinical picture of short neck, scoliosis, short trunk, and deformity of the rib cage. We describe a patient with the syndrome who also had spina bifida and diastematomyelia. We surmise that this association is not coincidental. Additional evidence is needed to support the hypothesis that spondylocostal dysplasia and neural tube defects are aetiologically related.

引用

页码：51 / 53

页数：3

共 10 条

[1] SPONDYLOCOSTAL SPONDYLOTHORACIC DYSOSTOSIS - THE CLINICAL BASIS FOR PROGNOSTICATING AND GENETIC-COUNSELING [J].