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dc.contributor.authorYousef, Mohamed A.
dc.contributor.authorAyers, David C.
dc.date2022-08-11T08:08:26.000
dc.date.accessioned2022-08-23T15:55:29Z
dc.date.available2022-08-23T15:55:29Z
dc.date.issued2021-03-23
dc.date.submitted2021-04-29
dc.identifier.citation<p>Yousef MA, Ayers DC. Challenging Diagnosis of Stickler Syndrome in a Patient with Premature Osteoarthritis: A Case Report. JBJS Case Connect. 2021 Mar 23;11(1). doi: 10.2106/JBJS.CC.20.00687. PMID: 33755637. <a href="https://doi.org/10.2106/JBJS.CC.20.00687">Link to article on publisher's site</a></p>
dc.identifier.issn2160-3251 (Linking)
dc.identifier.doi10.2106/JBJS.CC.20.00687
dc.identifier.pmid33755637
dc.identifier.urihttp://hdl.handle.net/20.500.14038/29765
dc.description.abstractCASE: A 53-year-old male patient, subsequently diagnosed with type I Stickler syndrome, presented with severe premature osteoarthritis associated with bilateral hip dysplasia and knee epiphyseal dysplasia. Despite the presence of the typical manifestations of orofacial defects, hearing, ocular, and musculoskeletal abnormalities, the patient had never been diagnosed with the syndrome. CONCLUSION: Stickler syndrome can present with a wide spectrum of musculoskeletal abnormalities without previous diagnosis. It is often underrecognized if the manifestations of other systems are not appreciated. Stickler syndrome should be considered in the differential diagnosis of patients with unexplained musculoskeletal abnormality particularly in the presence of other system manifestations.
dc.language.isoen_US
dc.relation<p><a href="http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=pubmed&cmd=Retrieve&list_uids=33755637&dopt=Abstract">Link to Article in PubMed</a></p>
dc.relation.urlhttps://doi.org/10.2106/jbjs.cc.20.00687
dc.subjecthereditary progressive arthro-ophthalmopathy
dc.subjecthip dysplasia
dc.subjectknee epiphyseal dysplasia
dc.subjectearly-onset osteoarthritis
dc.subjectCongenital, Hereditary, and Neonatal Diseases and Abnormalities
dc.subjectDiagnosis
dc.subjectMusculoskeletal Diseases
dc.subjectOrthopedics
dc.titleChallenging Diagnosis of Stickler Syndrome in a Patient with Premature Osteoarthritis: A Case Report
dc.typeJournal Article
dc.source.journaltitleJBJS case connector
dc.source.volume11
dc.source.issue1
dc.identifier.legacycoverpagehttps://escholarship.umassmed.edu/faculty_pubs/1976
dc.identifier.contextkey22709449
html.description.abstract<p>CASE: A 53-year-old male patient, subsequently diagnosed with type I Stickler syndrome, presented with severe premature osteoarthritis associated with bilateral hip dysplasia and knee epiphyseal dysplasia. Despite the presence of the typical manifestations of orofacial defects, hearing, ocular, and musculoskeletal abnormalities, the patient had never been diagnosed with the syndrome.</p> <p>CONCLUSION: Stickler syndrome can present with a wide spectrum of musculoskeletal abnormalities without previous diagnosis. It is often underrecognized if the manifestations of other systems are not appreciated. Stickler syndrome should be considered in the differential diagnosis of patients with unexplained musculoskeletal abnormality particularly in the presence of other system manifestations.</p>
dc.identifier.submissionpathfaculty_pubs/1976
dc.contributor.departmentDepartment of Orthopedics and Physical Rehabilitation


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