Spondylothoracic dysostosis associated with diaphragmatic hernia and camptodactyly

被引：0
|
作者：
Swietlinski, J
Swist-Szulik, K
Maruniak-Chudek, I
Pyrkosz, A
机构：
[1] L Warynski Silesian Med Acad, Klin Intensywnej Terapii & Patol Now, Upper Silesian Child & Mother Hlth Ctr, Div Neonatol Intens Care,Dept Paediat, PL-40752 Katowice, Poland
[2] L Warynski Silesian Med Acad, Upper Silesian Child & Mother Hlth Ctr, Dept Clin Genet, PL-40752 Katowice, Poland
来源：
GENETIC COUNSELING | 2002年 / 13卷 / 03期
关键词：
vertebral segmentation defects; diaphragmatic hernia; vertebral and costal deformation;
D O I：
暂无
中图分类号：
Q81 [生物工程学（生物技术）]; Q93 [微生物学];
学科分类号：
071005 ; 0836 ; 090102 ; 100705 ;
摘要：
Spondylothoracic dysostosis associated with diaphragmatic hernia and camptodactyly. We present a case of a female newborn with a combination of congenital diaphragmatic hernia, skeletal defects, craniofacial dysmorphism, dextrocardia and persistent ductus arteriosus, and normal female karyotype. History of family and pregnancy-labour were non-contributory. The findings in the present patient are most compatible with the diagnosis of a spondylothoracic dysostosis with a set of uncommon anomalies.
引用
收藏
页码：309 / 317
页数：9
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