Arm Span and Its Relation to Height in a 2-to 17-Year-Old Reference Population and Heterozygous Carriers of ACAN Variants
Arm Span and Its Relation to Height in a 2-to 17-Year-Old Reference Population and Heterozygous Carriers of ACAN Variants
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DOI：
10.1159/000508500
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发表时间：
2020-09-01
影响因子：
3.2
通讯作者：
Wit, Jan M.
中科院分区：
文献类型：
--
作者：
Gerver, Willem J. M.;Gkourogianni, Alexandra;Wit, Jan M.
背景/目标：在矮个子或高个子的临床评估中，估计身体比例失调有助于评估原发性生长障碍（例如骨骼发育不良）的可能性。我们的目标是（1）使用马斯特里赫特健康儿童（2-17岁）研究的数据来计算身高（H）的相对臂展（AS），作为临床目的的年龄参考； (2)评估其年龄和性别依赖性； (3) 调查 ACAN 单倍体不足个体中年龄和性别的相对 AS 调整。 方法：重新分析马斯特里赫特研究数据（2,595 名白人儿童，52% 男孩，48% 女孩），以生成 AS - H 和 AS/H 年龄和性别的参考表和图表。已发表的欧洲人 AS/H 信息被用作成人的参考数据。将 33 名 ACAN 单倍体不足患者的相对 AS 与参考数据作图，并表示为年龄和性别的标准差评分 (SDS)。 结果：从 2 岁到 17 岁，男孩的平均 AS - H 从 -1.2 增加到 +1.5 cm，女孩从 -4.8 增加到 +1.6 cm。男孩的平均 AS/H 从 0.9848 增加到 1.0155，女孩的平均 AS/H 从 0.9468 增加到 1.0028。 ACAN单倍体不足患者的平均 AS/H 在幼儿、青少年和 20 至 50 岁的患者中分别约为 1.0、1.5 和 0.5 SDS，此后则正常。结论：这些参考图表可用于 2 至 17 岁的儿童/青少年。 ACAN单倍体不足的携带者在儿童期和青春期的平均AS/H升高，并且直到50岁为止比率略有升高。
Background/Objectives:In the clinical assessment of a short or tall child, estimating body disproportion is useful to assess the likelihood of a primary growth disorder, e.g., skeletal dysplasia. Our objectives were (1) to use data from the Maastricht study on healthy children (2-17 years) to calculate relative arm span (AS) for height (H) to serve as age references for clinical purposes; (2) to assess its age and sex dependency; and (3) to investigate relative AS adjustment for age and sex in individuals withACANhaploinsufficiency.Methods:The Maastricht study data (2,595 Caucasian children, 52% boys, 48% girls) were re-analysed to produce reference tables and graphs for age and sex of AS - H and AS/H. Published information on AS/H in Europeans was used as reference data for adults. Relative AS from 33 patients withACANhaploinsufficiency were plotted against reference data and expressed as standard deviation score (SDS) for age and sex.Results:Mean AS - H from 2 to 17 years increased from -1.2 to +1.5 cm in boys and from -4.8 to +1.6 cm in girls. Mean AS/H increased from 0.9848 to 1.0155 in boys and from 0.9468 to 1.0028 in girls. Mean AS/H in patients withACANhaploinsufficiency was approximately 1.0, 1.5 and 0.5 SDS in young children, adolescents and 20- to 50-year-olds, respectively, and normal thereafter.Conclusions:These reference charts can be used for 2- to 17-year-old children/adolescents. Carriers ofACANhaploinsufficiency have an elevated mean AS/H in childhood and adolescence and a slightly elevated ratio till 50 years.