An Unusual Presentation of Osteogenesis Imperfecta: A Case Report

Sarah E. Lindsay, Lindsey E. Nicol, Ashley C. Gamayo, Ellen M. Raney

Research output: Contribution to journalArticlepeer-review

2 Scopus citations

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.

Original languageEnglish (US)
JournalJBJS case connector
Volume11
Issue number4
DOIs
StatePublished - Nov 22 2021
Externally publishedYes

ASJC Scopus subject areas

  • Medicine(all)

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