Del Pino Mariana, Ramos Mejía Rosario, Fano Virginia
Growth and Development, Pediatric Garrahan Hospital, Buenos Aires, Argentina.
Am J Med Genet A. 2018 Apr;176(4):896-906. doi: 10.1002/ajmg.a.38633. Epub 2018 Feb 9.
Achondroplasia is the most common form of inherited disproportionate short stature. We report leg length, sitting height, and body proportion curves for achondroplasia. Seven centile format of sitting height, leg length, sitting height/leg length ratio, sitting height/height ratio, and head circumference/height ratio were estimated by the LMS method. The Q-test was applied to assess the goodness of fit. For comparison, centiles of sitting height and leg length were graphed using Argentine national growth references for achondroplasia and non-achondroplasia populations. The sample consisted of 342 children with achondroplasia (171 males, 171 females) aged 0-18 years. The median (interquartile range) number of measurements per child was 6 (3, 12) for sitting height and 8 (3, 13) for head circumference. Median leg length increased from 14 cm at age 1 week to 44 and 40 cm (males and females, respectively) in achondroplasia adolescents which is 3.5 cm shorter than non-achondroplasia children at age 1 week and, 38 cm shorter at adolescence. Median sitting height increased from 34 cm at birth to 86 and 81 in adolescents' boys and girls respectively, only 5 cm shorter than non-achondroplasia children. Sitting height/leg length decreased from 2.61 at birth to approximately 1.90 at adolescent. Median head circumference/height ratio decreased from 0.79 at birth to 0.46 at 18 years in both sexes. Growth of lower limbs is affected early in life and becomes more noticeable throughout childhood. The disharmonic growth between the less affected trunk and the severely affected limbs determine body disproportion in achondroplasia.
软骨发育不全是遗传性身材不成比例矮小的最常见形式。我们报告了软骨发育不全患者的腿长、坐高和身体比例曲线。通过LMS方法估计了坐高、腿长、坐高/腿长比、坐高/身高比以及头围/身高比的七个百分位数形式。应用Q检验来评估拟合优度。为作比较,使用阿根廷全国软骨发育不全和非软骨发育不全人群的生长参考数据绘制了坐高和腿长的百分位数图表。样本包括342名0至18岁的软骨发育不全儿童(171名男性,171名女性)。每个儿童坐高测量的中位数(四分位间距)为6次(3次,12次),头围测量为8次(3次,13次)。软骨发育不全青少年的腿长中位数从1周龄时的14厘米增加到44厘米(男性)和40厘米(女性),这比1周龄时的非软骨发育不全儿童短3.5厘米,青春期时短38厘米。坐高中位数从出生时的34厘米分别增加到青少年男孩的86厘米和女孩的81厘米,仅比非软骨发育不全儿童短5厘米。坐高/腿长从出生时的2.61降至青少年时约1.90。两性的头围/身高比中位数从出生时的0.79降至18岁时的0.46。下肢生长在生命早期就受到影响,并且在整个儿童期变得更加明显。躯干受影响较小与四肢受严重影响之间的不协调生长决定了软骨发育不全患者的身体比例失调。