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Clinical charts for surveillance of growth and body proportion development in achondroplasia and examples of their use
American Journal of Medical Genetics Part A ( IF 1.7 ) Pub Date : 2020-11-21 , DOI: 10.1002/ajmg.a.61974
Luitgard Neumeyer 1 , Andrea Merker 2 , Lars Hagenäs 1, 2
Affiliation  

Clinical surveillance of infants and children with achondroplasia necessitates syndrome‐specific charts due to extreme short stature with deviating body proportions. Height, arm span and leg length develop far below normal population ranges. We present growth and body proportion charts for ages 0–20 years, constructed from semi‐longitudinal standardized measurements of about 450 children, along with some examples of achondroplasia typical and atypical growth pattern. We combine head circumference, height and weight for 0–4 years into one (infancy) page and height and weight for 4–20 years in another (childhood–adolescence) using nonlinear axes to account for the rapidly decreasing growth velocity. Similarly, weight and BMI are based on nonlinear axes to balance wide SD‐channels at higher and narrow SD‐channels at lower levels of weight/BMI. Charts for following sitting height, sitting height/height ratio, arm span, leg and foot length are also presented. Clinical examples illustrating the applicability of the charts include cases of extreme prematurity, extreme head circumference development before and after shunting, achondroplasia complicated by chromosomal or additional genetic abnormality and by growth hormone deficiency as well as of evaluating growth promoting therapy.

中文翻译:

用于监测软骨发育不全的生长和身体比例发育的临床图表及其使用示例

对患有软骨发育不全的婴儿和儿童进行临床监测时,由于身材极矮且身体比例有偏差,因此需要针对特定​​综合征的图表。身高、臂展和腿长远低于正常人口范围。我们展示了 0-20 岁的生长和身体比例图表,由大约 450 名儿童的半纵向标准化测量值构建,以及一些软骨发育不全典型和非典型生长模式的例子。我们使用非线性轴将 0-4 年的头围、身高和体重合并到一个(婴儿期)页面中,并将 4-20 年的身高和体重合并到另一页(儿童期-青春期)中,以解释快速下降的生长速度。类似地,体重和 BMI 是基于非线性轴来平衡较高水平的宽 SD 通道和较低水平的体重/BMI 的窄 SD 通道。还提供了以下坐高、坐高/身高比、臂展、腿和脚长的图表。说明图表适用性的临床实例包括极端早产、分流前后极端头围发育、伴有染色体或其他遗传异常和生长激素缺乏的软骨发育不全以及评估生长促进疗法的病例。
更新日期:2021-01-12
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