An Unusual Presentation of Osteogenesis Imperfecta: A Case Report

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

doi:10.2106/JBJS.CC.21.00480

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 journal › Article › peer-review

3 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 language	English (US)
Article number	e21.00480
Journal	JBJS case connector
Volume	11
Issue number	4
DOIs	https://doi.org/10.2106/JBJS.CC.21.00480
State	Published - Nov 22 2021
Externally published	Yes

Keywords

CREB3L1
IFITM5
female
fibrous dysplasia
osteogenesis imperfecta
pediatric

ASJC Scopus subject areas

Surgery
Orthopedics and Sports Medicine

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10.2106/JBJS.CC.21.00480

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title = "An Unusual Presentation of Osteogenesis Imperfecta: A Case Report",

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.",

keywords = "CREB3L1, IFITM5, female, fibrous dysplasia, osteogenesis imperfecta, pediatric",

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doi = "10.2106/JBJS.CC.21.00480",

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T2 - A Case Report

AU - Lindsay, Sarah E.

AU - Nicol, Lindsey E.

AU - Gamayo, Ashley C.

AU - Raney, Ellen M.

PY - 2021/11/22

Y1 - 2021/11/22

N2 - 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.

AB - 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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An Unusual Presentation of Osteogenesis Imperfecta: A Case Report

Abstract

Keywords

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