雷特综合征患者的身体生长与发育

Physical growth and development in patients with Rett syndrome.

作者信息

Holm V A

出版信息

Am J Med Genet Suppl. 1986;1:119-26. doi: 10.1002/ajmg.1320250513.

DOI:10.1002/ajmg.1320250513

Abstract

Linear growth and sexual development was assessed in 21 girls who fulfilled the clinical criteria of Rett syndrome. Ten (48%) showed growth retardation with length or height below the 5th centile and an additional 8 (38%) had shifted their linear growth downward sometime during the first years of life. All the girls had age-appropriate sexual development with menarche in 6 at a mean age of 11 2/12 years. Early deceleration of linear growth, growth retardation and normal sexual development appear to be useful markers in the clinical definition of Rett syndrome.

摘要

对符合雷特综合征临床标准的21名女孩的线性生长和性发育进行了评估。其中10名（48%）表现出生长迟缓，身长或身高低于第5百分位数，另有8名（38%）在生命的头几年中某个时候线性生长出现下降。所有女孩的性发育均与年龄相符，6名女孩月经初潮，平均年龄为11又2/12岁。线性生长早期减速、生长迟缓以及正常的性发育似乎是雷特综合征临床定义中的有用标志。