Merker Andrea, Neumeyer Luitgard, Hertel Niels Thomas, Grigelioniene Giedre, Mohnike Klaus, Hagenäs Lars
Department of Women's and Children's Health, Karolinska Institutet, Stockholm, Sweden.
Pediatric Endocrinology Unit, Karolinska University Hospital, Stockholm, Sweden.
Am J Med Genet A. 2018 Sep;176(9):1819-1829. doi: 10.1002/ajmg.a.40356. Epub 2018 Aug 27.
The aims of this study was to construct references for sitting height, leg length, arm span, relative sitting height (sitting height/height), and foot length and to discuss the development for these anthropometric variables in achondroplasia. Sex-specific references covering ±2 SD are presented for ages 2-20 years. Legs and arms in achondroplasia are already at 2 years of age considerably shorter than in the general population and this deviation increases with age. At adult ages, legs are almost 50% shorter than in the general population and arm span roughly 35% shorter. As sitting height is only mildly affected, relative sitting height position develops far beyond normal ranges. Foot length is also not as affected as limbs.
本研究的目的是构建坐高、腿长、臂展、相对坐高（坐高/身高）和足长的参考标准，并探讨软骨发育不全患者这些人体测量变量的发育情况。给出了2至20岁涵盖±2标准差的按性别划分的参考标准。软骨发育不全患者在2岁时腿部和手臂就已经比一般人群明显短，且这种偏差随年龄增加。在成年期，腿部比一般人群短近50%，臂展约短35%。由于坐高仅受到轻微影响，相对坐高位置的发育远超正常范围。足长也不像四肢那样受到严重影响。
