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
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