Stevens C A, Hennekam R C, Blackburn B L
Department of Pediatrics, University of Utah School of Medicine, Salt Lake City.
Am J Med Genet Suppl. 1990;6:51-5. doi: 10.1002/ajmg.1320370609.
In 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 microcephalic.
为了得出身高、体重、头围(OFC)、身高别体重和身高增长速度的标准曲线,我们对95例鲁宾斯坦-泰比综合征患者进行了系列测量。其中50例个体参与了一项美国研究,45例在荷兰确诊。鲁宾斯坦-泰比综合征患者的产前生长似乎正常,但在出生后的头几个月,身高、体重和头围迅速降至第5百分位数以下。身高增长速度略低于平均水平,但除了缺乏青春期生长突增外,仍在正常范围内。这种现象可能导致了这些患者出现身材矮小。男性在儿童期身高别体重超重,而女性在青春期超重。男性的平均头围小于女性。一般来说,只有少数成年患者是小头畸形。