首页   按字顺浏览 期刊浏览 卷期浏览 Growth in the Rubinstein‐Taybi syndrome
Growth in the Rubinstein‐Taybi syndrome

 

作者: Cathy A. Stevens,   Raoul C. M. Hennekam,   Brent L. Blackburn,  

 

期刊: American Journal of Medical Genetics  (WILEY Available online 1990)
卷期: Volume 37, issue S6  

页码: 51-55

 

ISSN:0148-7299

 

年代: 1990

 

DOI:10.1002/ajmg.1320370609

 

出版商: Wiley Subscription Services, Inc., A Wiley Company

 

关键词: broad thumb syndrome;growth studies;short stature

 

数据来源: WILEY

 

摘要:

AbstractIn order to derive standard curves for height, weight, head circumference (OFC), weight‐for‐height, and height velocity, we obtained serial measurements in 95 patients with the Rubinstein‐Taybi syndrome. Fifty individuals were part of an American study and 45 were ascertained in the Netherlands. Prenatal growth appears to be normal in the Rubinstein‐Taybi syndrome, but height, weight, and OFC rapidly fall below the 5th centile in the first few months of life. Height velocity is somewhat below the mean but within the normal range except for the lack of a pubertal growth spurt. This phenomenon probably contributes to the short stature which is seen in these patients. Males are overweight for height during childhood while females are overweight during adolescence. The average OFC in males is smaller than in females. In general only a minority of adult patients are microc

 

点击下载:  PDF (446KB)



返 回