Does osteogenesis imperfecta predispose infants to metaphyseal fractures? A systematic review.

Clinical Snapshot

Key Findings

• Effect Size: Not quantified - descriptive results only

• Primary Outcome: Prevalence of metaphyseal fractures in children with OI under 2 years

• Nnt Or Sensitivity: One study reported 4/41 children (9.8%) with OI had metaphyseal fractures

• Confidence Interval: Not provided

Clinical Application

Findings support current practice of maintaining high index of suspicion for abuse even in children with confirmed OI Relevant to Australian paediatric practice, aligns with RACGP guidelines on child protection and mandatory reporting requirements Paediatric patients under 2 years with suspected or confirmed osteogenesis imperfecta presenting with metaphyseal fractures

Abstract

OBJECTIVE: The notion that osteogenesis imperfecta (OI) predisposes children to metaphyseal fractures is controversial. This review aimed to ascertain the prevalence of metaphyseal fractures in children with OI less than 2 years of age. MATERIALS AND METHODS: Medline, CINAHL and Web of Science were searched for studies reporting metaphyseal fractures in children with OI less than 2 years of age. Articles not retrievable, not published in English, or where 'metaphyseal' fracture was not defined/illustrated, were excluded. Article quality was independently assessed using the Critical Appraisal Skills Programme and Case Reports tools. RESULTS: Of 298 retrieved abstracts, 82 were duplicates: 216 articles were screened by title and abstract, excluding 186. Hand search of the remaining 30 articles identified two further articles. Only four articles were included: (1) 4/41 children with OI aged between 1 day and 3 years with 'metaphyseal' fractures; (2) a case series including a 16-month-old boy with three 'metaphyseal' fractures. Abuse concerns remained despite a type IV OI diagnosis (not genetically confirmed); (3) a 7-month-old girl with two 'corner' fractures suspected to have OI and to have been abused; and (4) a pair of siblings with 'metaphyseal' fractures and type XI OI (FKBP10 mutation). CONCLUSIONS: There is limited evidence that OI predisposes infants and young children to metaphyseal fractures. The two diagnoses are not mutually exclusive and until further large studies are conducted, physical abuse should always be considered in infants and young children with metaphyseal fractures, even in those with confirmed OI.

References

1. 1.Riley, E., Paddock, M., Elgarwany, S., Fairhurst, J., Halliday, K., Jeanes, A., Johnson, K., & Offiah, A. C. (2026). Does osteogenesis imperfecta predispose infants to metaphyseal fractures? A systematic review. BMJ Paediatrics Open. https://doi.org/10.1136/bmjpo-2025-003755