Abstract
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.Conclusion: 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.
Highlights
Osteogenesis imperfecta (OI) is a rare genetic disorder of type I collagen
Dzieci Polskich 20, 04-730 Warszawa, Poland. 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, their body height is impaired
Children with type I osteogenesis imperfecta are smaller from the beginning than their healthy counterparts, their development slows down from 8 years old and, their final body height is impaired
Summary
Osteogenesis imperfecta (OI) is a rare genetic disorder of type I collagen. Sillence [10] proposed a classification into four types, based on radiographic, clinical and genetic data; in some studies, even more are described [3, 7]. The most common is type I, which is called a non-deforming type of. OI [7], as in this condition, there are no major bone deformities. This type is characterised by blue sclera and vertebral fractures, leading to mild scoliosis. Functional level and intellectual development, as well as life expectancy, are normal. As this type is the mildest of all OI types, the body height of these patients is acknowledged as normal or only slightly reduced [3]. In the known literature, there is no measurement data supporting this opinion
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