Department of Pediatrics, Ambroise Paré Hospital, APHP, Boulogne-Billancourt, France.
Pediatr Res. 2018 Jan;83(1-1):71-77. doi: 10.1038/pr.2017.210. Epub 2017 Sep 27.
BackgroundTo describe the growth patterns of children affected by Marfan syndrome (MFS) compared with those of unaffected children and to create growth charts.MethodsAn observational study of children referred to the French National MFS Reference Centre. A total of 259 children carrying an FBN1 gene mutation and fulfilling Ghent 1 criteria (MFS group) and 474 mutation-negative sibling controls (non-MFS group) were evaluated. Both groups were compared with French-accepted reference nomograms (Reference group).ResultsBoys and girls from the MFS group were significantly taller than those in the non-MFS group and in the reference group at all ages (P<0.0001). But, MFS children's overgrowth reduced with age. At 17 years of age, the mean height (MFS vs. non-MFS) was 191.2±8.4 cm (+2.9 SD) vs. 182.9±8.1 (+1.6 SD) for boys and 178.3±7.6 cm (+2.7 SD) vs. 169.5±6.8 (+1.2 SD) for girls, respectively. By contrast, the mean BMI of children in the MFS group was similar to those in the non-MFS group and inferior to the values of French general population, evolving around -1 SD.ConclusionGrowth patterns differ in patients with an FBN1 mutation. Knowing the growth parameters should allow physicians to better counsel patients and detect the associated diseases. The provided curves could also help to predict the final height.
描述马凡综合征（MFS）患儿与正常儿童的生长模式，并制定生长图表。
这是一项针对法国国家 MFS 参考中心转诊患儿的观察性研究。共评估了 259 名携带 FBN1 基因突变且符合根特 1 标准的患儿（MFS 组）和 474 名基因突变阴性的同胞对照组（非 MFS 组）。这两组均与法国公认的参考标准图表（参考组）进行比较。
MFS 组的男孩和女孩在所有年龄段都明显高于非 MFS 组和参考组（P<0.0001）。但是，MFS 患儿的生长过度随年龄增长而减少。在 17 岁时，男孩的平均身高（MFS 与非 MFS）分别为 191.2±8.4 cm（+2.9 SD）和 182.9±8.1（+1.6 SD），女孩分别为 178.3±7.6 cm（+2.7 SD）和 169.5±6.8（+1.2 SD）。相比之下，MFS 组儿童的平均 BMI 与非 MFS 组相似，低于法国普通人群的数值，围绕-1 SD 变化。
FBN1 基因突变患者的生长模式不同。了解生长参数应有助于医生更好地为患者提供咨询，并发现相关疾病。提供的曲线还可以帮助预测最终身高。
