期刊
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
卷 176, 期 9, 页码 1819-1829出版社
WILEY
DOI: 10.1002/ajmg.a.40356
关键词
achondroplasia; arm span; body proportion; foot length; GAMLSS; growth; leg length; relative sitting height; sitting height
资金
- Stiftelsen Promobilia
- Stiftelsen Sven Jerrings Fond
- H.K.H. Kronprinsessan Lovisas forening for barnasjukvard
- RBU's forskningsstiftelse
- BioMarin Europe Ltd.
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.
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