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 language||English (US)|
|Journal||JBJS case connector|
|State||Published - Nov 22 2021|
- fibrous dysplasia
- osteogenesis imperfecta
ASJC Scopus subject areas
- Orthopedics and Sports Medicine