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

Kessiena L. Aya, Kelly D. Carmichael, Matthew Igbinigie

Research output: Contribution to journalArticle

Abstract

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.

Original languageEnglish (US)
Pages (from-to)e0317
JournalJBJS case connector
Volume9
Issue number3
DOIs
StatePublished - Jul 1 2019

Fingerprint

Osteogenesis Imperfecta
Stress Fractures
Femur
Pediatrics
Genes
Collagen
Phenotype

ASJC Scopus subject areas

  • Surgery
  • Orthopedics and Sports Medicine

Cite this

Distal Femur Insufficiency Fracture in a Pediatric Patient : An Atypical Presentation of Osteogenesis Imperfecta: A Case Report. / Aya, Kessiena L.; Carmichael, Kelly D.; Igbinigie, Matthew.

In: JBJS case connector, Vol. 9, No. 3, 01.07.2019, p. e0317.

Research output: Contribution to journalArticle

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