Calcified Tissue International

, Volume 103, Issue 5, pp 529–539 | Cite as

Diagnosis of Recurrent Fracture in a Pediatric Cohort

  • M. FiscalettiEmail author
  • C. P. Coorey
  • A. Biggin
  • J. Briody
  • D. G. Little
  • A. Schindeler
  • C. F. Munns
Original Research


Significant fracture history in children is defined as having at least one vertebral fracture, at least 2 fractures by age 10, or at least 3 fractures by age 19. Between September 2011 and December 2014, clinical data were collected on children with a significant fracture history that attended a major Australian children’s hospital. Fifty-six patients were identified as having 305 fractures in total, including 44 vertebral fractures. 18% of patients (10/56) were diagnosed with osteogenesis imperfecta (OI) by a bone health expert, molecular testing or both, and they sustained 23% of all fractures (71/305). Analysis of serum bone biochemistry showed all median values to be within a normal range and no clinically significant differences between patients with and without OI. The DXA and pQCT derived bone mineral density (BMD) and bone mineral content (BMC) Z scores were reduced overall. DXA derived total body and lumbar spine areal BMD-for-age and BMC-for-age Z scores were significantly lower in children who had vertebral fractures or who were later diagnosed with OI. Similarly, pQCT performed on radii and tibiae showed Z scores significantly less than zero. pQCT-derived limb muscle cross sectional area Z scores were significantly lower in the OI subgroup. In conclusion, this study describes the bone phenotype of children referred to a tertiary hospital clinic for recurrent fractures and highlights a subset of children with previously undiagnosed OI, but a larger cohort without classic OI. Thus it can be clinically challenging to differentiate between children with OI type 1 (mild phenotype) and non-OI children without bone densitometry and genetic testing. We conclude that recurrent fractures in children should prompt a comprehensive bone and systemic health assessment to eliminate an underlying pathology.


Fracture Recurrent fracture Osteogenesis imperfecta Bone Bone density Bone mineral density Dual-energy X-ray absorptiometry DXA Peripheral quantitative computed tomography pQCT 



We extend our thanks to the participants and their families for accepting to be part of this study.


The current work was undertaken with a research grant from Osteoporosis Australia and the Australia New Zealand Bone and Mineral Society.

Compliance with Ethical Standards

Conflict of interest

Dr Fiscaletti reports grants from Osteoporosis Australia/ANZBMS, during the conduct of the study; personal fees from Alexion, outside the submitted work. Mr Coorey reports grants from Osteoporosis Australia/ANZBMS, during the conduct of the study. Dr Biggin reports grants from Osteoporosis Australia/ANZBMS, during the conduct of the study. Ms Briody reports grants from Osteoporosis Australia/ANZBMS, during the conduct of the study. Professor Little reports grants from Osteoporosis Australia/ANZBMS, during the conduct of the study; grants and non-financial support from Novartis Pharma, grants from N8 Medical, grants from Celgene, grants and non-financial support from Amgen Inc., personal fees from Orthopediatrics, outside the submitted work. Associate Professor Schindeler reports grants from Osteoporosis Australia/ANZBMS, during the conduct of the study; grants and non-financial support from Novartis Pharma, grants from N8 Medical, grants from Celgene, grants and non-financial support from Amgen Inc, outside the submitted work. Professor Munns reports grants from Osteoporosis Australia/ANZBMS, during the conduct of the study; grants from Ultragenyx, grants and personal fees from Alexion, grants from Amgen, grants from Novartis, and grant from GSK, outside the submitted work.

Human and Animal Rights and Informed Consent

This article does not contain any studies with human or animal subjects performed by any of the authors.


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Copyright information

© Springer Science+Business Media, LLC, part of Springer Nature 2018

Authors and Affiliations

  1. 1.Institute of Endocrinology and DiabetesThe Children’s Hospital at WestmeadWestmeadAustralia
  2. 2.Discipline of Paediatrics and Child Health, Sydney Medical SchoolUniversity of SydneySydneyAustralia
  3. 3.Department of Nuclear MedicineThe Children’s Hospital at WestmeadWestmeadAustralia
  4. 4.Department of OrthopaedicsThe Children’s Hospital at WestmeadSydneyAustralia
  5. 5.Orthopaedic Research & Biotechnology UnitThe Children’s Hospital at WestmeadWestmeadAustralia
  6. 6.Department of Endocrinology & DiabetesThe Children’s Hospital at WestmeadWestmeadAustralia

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