An Unusual Presentation of Osteogenesis Imperfecta: A Case Report
Sarah E Lindsay1, Lindsey E Nicol2, Ashley C Gamayo1
1Oregon Health & Science University, Portland, Oregon.
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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