Distal Femur Insufficiency Fracture in a Pediatric Patient: An Atypical Presentation of Osteogenesis Imperfecta: A Case Report.

CASE: We present an unusual case of a distal metaphyseal femur insufficiency fracture in an adolescent with a history of multiple low-energy appendicular fractures. A genetic workup was significant for a variant of unknown significance to the Col1A1 gene.

CONCLUSIONS

To our knowledge, this is the first report of this collagen gene variant as a risk factor for multiple fractures. The case illustrates the presentation of this gene's phenotype and suggested medical management.