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

doi:10.2106/JBJS.CC.18.00317

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

Orthopaedic Surgery & Rehabilitation

Research output: Contribution to journal › Article › peer-review

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 language	English (US)
Pages (from-to)	e0317
Journal	JBJS case connector
Volume	9
Issue number	3
DOIs	https://doi.org/10.2106/JBJS.CC.18.00317
State	Published - Jul 1 2019

ASJC Scopus subject areas

Surgery
Orthopedics and Sports Medicine

Access to Document

10.2106/JBJS.CC.18.00317

Cite this

@article{aa79422041ef4c67920430dd275c601e,

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

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.",

author = "Aya, {Kessiena L.} and Carmichael, {Kelly D.} and Matthew Igbinigie",

year = "2019",

month = jul,

day = "1",

doi = "10.2106/JBJS.CC.18.00317",

language = "English (US)",

volume = "9",

pages = "e0317",

journal = "JBJS case connector",

issn = "2160-3251",

publisher = "Lippincott Williams and Wilkins",

number = "3",

}

TY - JOUR

T1 - Distal Femur Insufficiency Fracture in a Pediatric Patient

T2 - An Atypical Presentation of Osteogenesis Imperfecta: A Case Report

AU - Aya, Kessiena L.

AU - Carmichael, Kelly D.

AU - Igbinigie, Matthew

PY - 2019/7/1

Y1 - 2019/7/1

N2 - 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.

AB - 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.

UR - http://www.scopus.com/inward/record.url?scp=85072933970&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=85072933970&partnerID=8YFLogxK

U2 - 10.2106/JBJS.CC.18.00317

DO - 10.2106/JBJS.CC.18.00317

M3 - Article

C2 - 31584903

SN - 2160-3251

VL - 9

SP - e0317

JO - JBJS case connector

JF - JBJS case connector

IS - 3

ER -

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

Abstract

ASJC Scopus subject areas

Access to Document

Other files and links

Fingerprint

Cite this