PURPOSE Growth deficiency is a cardinal feature of osteogenesis imperfecta (OI) types III and IV, caused by pathogenic variants in type I collagen. OI-specific longitudinal growth charts are needed for patient care. METHODS We compiled longitudinal length, weight, head circumference, and body mass index (BMI) data from 100 children with types III and IV OI and known type I collagen pathogenic variants. Effects of gender, OI type, and pathogenic variant were examined using multilevel modeling. OI-specific centile curves were constructed using generalized additive model for location, scale, and shape (GAMLSS). RESULTS OI type and gender, but not the specific mutated collagen gene, significantly affect stature, but only OI type affects weight. Head circumference was not significantly different by gender, type, or mutated gene. In both genders, length curves for types III and IV OI overlap and the type IV 95th centile curve overlaps the lower US Centers for Disease Control and Prevention (CDC) curves for the general population. A pubertal growth spurt is generally absent or blunted in types III/IV OI. The body mass index 50th and 95th centile curves are distinctly shifted above respective US CDC curves in both genders. CONCLUSIONS OI type is a stronger contributing factor than gender for OI growth, while curves do not differ for COL1A1 versus COL1A2 pathogenic variants. Types III and IV OI-specific growth curves are presented.

中文翻译：

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由 I 型胶原结构致病变异引起的经典成骨不全症（III 型和 IV 型）儿童的纵向生长曲线。

目的 生长缺陷是 III 型和 IV 型成骨不全症 (OI) 的主要特征，由 I 型胶原蛋白的致病变异引起。患者护理需要特定于 OI 的纵向生长图表。方法 我们收集了 100 名患有 III 型和 IV 型 OI 以及已知的 I 型胶原致病变异的儿童的纵向长度、体重、头围和体重指数 (BMI) 数据。使用多级模型检查性别、OI 类型和致病变异的影响。使用位置、比例和形状的广义加法模型 (GAMLSS) 构建 OI 特定的百分位曲线。结果OI类型和性别，但不是特定的突变胶原基因，显着影响身高，但只有OI类型影响体重。头围在性别、类型或突变基因方面没有显着差异。在两性中，III 型和 IV 型 OI 的长度曲线重叠，IV 型第 95 个百分位曲线与美国疾病控制和预防中心 (CDC) 较低的一般人群曲线重叠。在 III/IV 型 OI 中，青春期生长突增通常不存在或变钝。两种性别的体重指数第 50 和第 95 百分位曲线明显高于各自的美国疾病预防控制中心曲线。结论 OI 类型对 OI 生长的影响比性别更强，而 COL1A1 与 COL1A2 致病变异的曲线没有差异。呈现了 III 型和 IV 型 OI 特异性生长曲线。两种性别的体重指数第 50 和第 95 百分位曲线明显高于各自的美国疾病预防控制中心曲线。结论 OI 类型对 OI 生长的影响比性别更强，而 COL1A1 与 COL1A2 致病变异的曲线没有差异。呈现了 III 型和 IV 型 OI 特异性生长曲线。两种性别的体重指数第 50 和第 95 百分位曲线明显高于各自的美国疾病预防控制中心曲线。结论 OI 类型对 OI 生长的影响比性别更强，而 COL1A1 与 COL1A2 致病变异的曲线没有差异。呈现了 III 型和 IV 型 OI 特异性生长曲线。