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dc.contributor.authorFerguson, Jane L.
dc.contributor.authorBurrows, Susan R. J.
dc.date.accessioned2021-03-23T09:36:53Z
dc.date.available2021-03-23T09:36:53Z
dc.date.issued2020-09-03
dc.identifier.citationFerguson JL, Burrows SRJ. Osteogenesis imperfecta Type XI: A rare cause of severe infantile cervical kyphosis. Radiol Case Rep. 2020 Sep 3;15(11):2157-2163.en_US
dc.identifier.pmid32952755
dc.identifier.doi10.1016/j.radcr.2020.06.049
dc.identifier.urihttps://rde.dspace-express.com/handle/11287/621680
dc.description.abstractOsteogenesis imperfecta is a genetic disorder by bone fragility and decreased bone density. Ligamentous laxity is also a feature. We present a case report of a very young, nonmobile infant of 5 months who initially presented with a tibial fracture, and during a skeletal survey, was found to have other features consistent with osteogenesis imperfecta, including rib fractures of different ages, and multiple Wormian bones within the skull. The skeletal survey also revealed a severe cervical kyphosis, unusual in both osteogenesis imperfecta, and this age group. This presented a significant management challenge in such a young patient, and both computed tomography and magnetic resonance imaging were utilised to further characterise the bony anatomy, degree of kyphosis, spinal canal stenosis, and to visualise the spinal cord. The patient was treated with surgical reduction and an Aspen collar in a tertiary centre. Subsequent genetic testing was consistent with a diagnosis of compound heterozygous osteogenesis imperfecta Type XI.en_US
dc.language.isoenen_US
dc.publisherElsevier Scienceen_US
dc.relation.urlhttps://linkinghub.elsevier.com/retrieve/pii/S1930-0433(20)30298-3en_US
dc.rightsCrown Copyright © 2020 Published by Elsevier Inc. on behalf of University of Washington. This is an open access article under the CC BY-NC-ND license.en_US
dc.rightsCC0 1.0 Universal*
dc.rights.urihttp://creativecommons.org/publicdomain/zero/1.0/*
dc.subjectCervical fractureen_US
dc.subjectCervical kyphosisen_US
dc.subjectOsteogenesis imperfecta (OI) Type XIen_US
dc.titleOsteogenesis imperfecta Type XI: A rare cause of severe infantile cervical kyphosisen_US
dc.typeCase Reporten_US
dc.identifier.journalRadiology Case Reportsen_US
dc.identifier.pmcidPMC7484526
dc.description.noteThis article is available to RD&E staff via NHS OpenAthens. Click on the Publisher URL, and log in with NHS OpenAthens if prompted.en_US
dc.type.versionPublisheden_US


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Crown Copyright © 2020 Published by Elsevier Inc. on behalf of University of Washington. This is an open access article under the CC BY-NC-ND license.
Except where otherwise noted, this item's license is described as Crown Copyright © 2020 Published by Elsevier Inc. on behalf of University of Washington. This is an open access article under the CC BY-NC-ND license.