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Article

An Unusual Presentation of Osteogenesis Imperfecta: A Case Report.

JBJS case connector - 22 Nov 2021

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

Abstract excerpt

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...

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Identifiers

PMID: 34807880
DOI: 10.2106/JBJS.CC.21.00480

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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