Graff Krzysztof, Syczewska Malgorzata
Department of Rehabilitation, The Children's Memorial Health Institute, Al. Dzieci Polskich 20, 04-730, Warszawa, Poland.
Eur J Pediatr. 2017 Mar;176(3):311-316. doi: 10.1007/s00431-016-2839-y. Epub 2017 Jan 5.
Osteogenesis imperfecta (OI) is a rare genetic disorder of type I collagen. Type I is the most common, which is called a non-deforming type of OI, as in this condition, there are no major bone deformities. This type is characterised by blue sclera and vertebral fractures, leading to mild scoliosis. The body height of these patients is regarded as normal, or only slightly reduced, but there are no data proving this in the literature. The aim of this study is the preparation of the developmental charts of children with OI type I. The anthropometric data of 117 patients with osteogenesis imperfecta were used in this study (61 boys and 56 girls). All measurements were pooled together into one database (823 measurements in total). To overcome the problem of the limited number of data being available in certain age classes and gender groups, the method called reverse transformation was used. The body height of the youngest children, aged 2 and 3 years, is less than that of their healthy peers. Children between 4 and 7 years old catch up slightly, but at later ages, development slows down, and in adults, the median body height shows an SDS of -2.7.
These results show that children with type I OI are smaller from the beginning than their healthy counterparts, their development slows down from 8 years old, and, ultimately, their body height is impaired. What is Known: • The body height of patients with osteogenesis imperfecta type I is regarded as normal, or only slightly reduced, but in the known literature, there is no measurement data supporting this opinion. What is New: • Children with type I osteogenesis imperfecta are smaller from the beginning than their healthy counterparts, their development slows down from 8 years old and, ultimately, their final body height is impaired. • The developmental charts for the body height, body weight and BMI of children with type I osteogenesis imperfecta are shown.
成骨不全症(OI)是一种罕见的I型胶原蛋白遗传性疾病。I型是最常见的类型,被称为非变形型OI,在这种情况下,没有严重的骨骼畸形。这种类型的特征是巩膜蓝色和椎体骨折,导致轻度脊柱侧弯。这些患者的身高被认为是正常的,或仅略有降低,但文献中没有数据证明这一点。本研究的目的是编制I型OI患儿的发育图表。本研究使用了117例成骨不全症患者的人体测量数据(61名男孩和56名女孩)。所有测量数据汇总到一个数据库中(总共823次测量)。为了克服某些年龄组和性别组可用数据数量有限的问题,使用了反向转换方法。2岁和3岁的最年幼儿童的身高低于他们的健康同龄人。4至7岁的儿童略有追赶,但在以后的年龄,发育减缓,在成年人中,中位身高的标准差为-2.7。
这些结果表明,I型OI患儿从一开始就比健康儿童小,他们从8岁开始发育减缓,最终身高受损。已知信息:•I型成骨不全症患者的身高被认为是正常的,或仅略有降低,但在已知文献中,没有测量数据支持这一观点。新发现:•I型成骨不全症患儿从一开始就比健康儿童小,他们从8岁开始发育减缓,最终身高受损。•展示了I型成骨不全症患儿身高、体重和BMI的发育图表。