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Case Reports
. 2021 Nov 22;11(4).
doi: 10.2106/JBJS.CC.21.00480.

An Unusual Presentation of Osteogenesis Imperfecta: A Case Report

Sarah E Lindsay  1 , Lindsey E Nicol  2 , Ashley C Gamayo  1 , Ellen M Raney  2
Affiliations
Case Reports

An Unusual Presentation of Osteogenesis Imperfecta: A Case Report

Sarah E Lindsay et al. JBJS Case Connect. .

Abstract

Case: We report an 18-year-old patient with a clinical phenotype consistent with severe osteogenesis imperfecta (OI) with frequent fractures, short stature, shortening and bowing of extremities, and unusual radiographic features of severe fibrous dysplasia, including lytic lesions and a "ground-glass" appearance. Genetic testing for the patient was notable for a c.119C>T (p.Ser40Leu) variant in exon 1 of IFITM5 and a c.676C>A (Pro226Thr) variant in exon 5 of CREB3L1.

Conclusion: This unusual skeletal presentation was in the setting of a rare IFITM5 mutation and represents a unique case of severe OI.

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Conflict of interest statement

L.E. Nicol is a subinvestigator on a clinical research study sponsored by Mereo and receives travel funding from the OI foundation. None of the remaining authors have received funding or financial support for this project nor have any potential sources of conflict of interest. Disclosure: The Disclosure of Potential Conflicts of Interest forms are provided with the online version of the article (http://links.lww.com/JBJSCC/B721).

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