An observational study of the prevalence of classic metaphyseal fractures in children with osteogenesis imperfecta in the first two years of life

AIM

Classic metaphyseal fractures are highly suggestive of inflicted injury. Osteogenesis imperfecta (OI) is an important differential in infants presenting with unexplained fracture(s), and some argue that classic metaphyseal fractures occur accidentally in children with OI. This study sought to assess the prevalence of classic metaphyseal fractures in children with OI during the first 2 years of life.

MATERIALS AND METHODS

This was a retrospective observational cohort study of children with OI less than 2 years of age between 01/01/2010 and 31/12/2021. Radiographs and reports were reviewed by two observers. The site and type of fractures were recorded along with other radiological features of OI. Descriptive and inferential statistics were used to analyse the results.

RESULTS

There were 109 eligible patients (53 female) who had a total of 3,142 images (1,949 images in those less than 1 year old). There were 87 patients (79.8%) with a total of 462 long bone fractures, of which 386 (83.5%) were diaphyseal and 76 (16.5%) were at the junction of the diaphysis and metaphysis. No classic metaphyseal fractures were identified.

CONCLUSION

The absence of classic metaphyseal fractures in this large cohort suggests that OI is rarely, or not at all, associated with such fractures. However, metadiaphyseal fractures, reflecting bone fragility, are common; distinction should be made between ‘classic metaphyseal’ and ‘metadiaphyseal’ fractures to facilitate clinical decision-making. The unspecified term ‘metaphyseal fracture’ should be avoided. Children less than 2 years old with OI and classic metaphyseal fractures should be thoroughly investigated to exclude inflicted injury.