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Distal Femur Insufficiency Fracture in a Pediatric Patient: An Atypical Presentation of Osteogenesis Imperfecta

A Case Report

Aya, Kessiena L. DO, MSc1; Carmichael, Kelly D. MD1; Igbinigie, Matthew MD1

doi: 10.2106/JBJS.CC.18.00317
Case Reports

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.

1Department of Orthopaedic Surgery and Rehabilitation, The University of Texas Medical Branch, Galveston, Texas

E-mail address for K.L. Aya:

Investigation performed at The University of Texas Medical Branch, Galveston, Texas

Disclosure: The Disclosure of Potential Conflicts of Interest forms are provided with the online version of the article (

Copyright © 2019 by The Journal of Bone and Joint Surgery, Incorporated
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