Arasimowicz Elzbieta, Syczewska Małgorzata
Pracownia Antropologii Kliniki Pediatrii Instytutu, Pomnik-Centrum Zdrowia Dziecka, w Warszawie.
Pediatr Endocrinol Diabetes Metab. 2008;14(4):237-41.
Achondroplasia is a disease with long bone growth impairment. This disturbance is present in growth plates at correct ossifying bones. Achondroplasia is inherited as an autosomal dominant pattern. However, most cases are the result of new mutations. Achondroplasia is a distinctive condition that is usually noted at birth, but worsening is observed with age. The main criteria of division of achondroplasia are x-ray and genetic research.
Elaboration of percentile graph of growth prediction for children with achondroplasia.
In the research, 134 children at the age from 0 to 18 years and also adults with achondroplasia (under IP-CZD control) were included. The group contained 75 men and 59 women. Because of a small number of patients, the individual observations have been taken as a cross-sectional data. Anthropometric measurements have been taken by skilled staff in Anthropology Lab in Dept. Paediatrics of The Children's Memorial Health Institute according to Poznań norms applying to a reference system for children and young people.
The following percentiles: minimum, maximum, median and quartiles (25% and 75%) were calculated in age groups for normalized stature. Further the use of inverted transformation enables the calculation of prediction graphs.
The verification of the method was confirmed by the observation that the stature of 9 children with achondroplasia (5 boys and 4 girls) have been correctly placed on the graphs.
软骨发育不全是一种长骨生长受损的疾病。这种紊乱存在于正常骨化骨骼的生长板中。软骨发育不全以常染色体显性模式遗传。然而,大多数病例是新突变的结果。软骨发育不全是一种独特的病症,通常在出生时就被注意到,但随着年龄增长会恶化。软骨发育不全的主要分类标准是X射线和基因研究。
绘制软骨发育不全儿童生长预测百分位图。
本研究纳入了134名年龄在0至18岁的儿童以及患有软骨发育不全的成年人(在IP-CZD控制下)。该组包括75名男性和59名女性。由于患者数量较少,个体观察数据被视为横断面数据。人体测量由儿童纪念健康研究所儿科人类学实验室的熟练工作人员按照适用于儿童和青少年参考系统的波兹南规范进行。
计算了各年龄组标准化身高的以下百分位数:最小值、最大值、中位数和四分位数(25%和75%)。进一步通过反向变换可计算预测图。
9名软骨发育不全儿童(5名男孩和4名女孩)的身高在图上得到正确定位,这一观察结果证实了该方法的有效性。