Klippel-Feil syndrome: Should additional examination be conducted?

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dc.contributor.authorEkin, Elif Evrim
dc.contributor.authorAltunrende, Muhittin Emre
dc.date.accessioned2024-05-19T14:42:57Z
dc.date.available2024-05-19T14:42:57Z
dc.date.issued2024
dc.departmentİstinye Üniversitesien_US
dc.description.abstractPurpose Klippel-Feil syndrome (KF) is a rare disease defined as single or multi-level cervical vertebra fusion. KF could be accompanied by other spinal anomalies or isolated, and in which case necessity of whole spine screening is not clearly known. KF is investigated in terms of prevalence, gender distribution, fusion types, and frequency of accompanying anomalies according to types of KF. Methods Approval from our hospital's ethics committee was received for this single-center, retrospective study. Considering the exclusion criteria among the 40,901 cervical spine MRIs, 40,450 patients were included in the study. It was re-evaluated for KF, fusion level, classification, cervical scoliosis, and other musculoskeletal and spinal anomalies. Results 125 (0.309%) of 40,450 patients is diagnosed with KF, which is more common in women (P < 0.001). Single fused segment 106 (84.8%), multilevel fused segments 8 (6.4%), contiguous fused segments 11 (8.8%) are observed. Upper level KF is detected in 13 (10.4%) patients. The frequency of additional anomaly is significantly higher in upper level KF compared to other level fusions (P < 0.001, Chi-square t). The cervical scoliosis is diagnosed 34 (27%). In KF patients with scoliosis, the frequency of additional anomalies was significantly higher (P < 0.001, Chi-square t). Conclusion Klippel-Feil prevalence is 0.309%, it is frequently observed in women, and at C2-C3 level. Additional anomalies are especially associated with 'contiguous fused segments' and 'upper level' types. Klippel-Feil with scoliosis is an indicator of increased risk for associated anomalies, and examination of the whole spine is recommended.en_US
dc.identifier.doi10.1007/s00586-024-08281-y
dc.identifier.issn0940-6719
dc.identifier.issn1432-0932
dc.identifier.pmid38676727en_US
dc.identifier.scopus2-s2.0-85191716903en_US
dc.identifier.scopusqualityQ1en_US
dc.identifier.urihttps://doi.org10.1007/s00586-024-08281-y
dc.identifier.urihttps://hdl.handle.net/20.500.12713/5305
dc.identifier.wosWOS:001208954000003en_US
dc.identifier.wosqualityN/Aen_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.language.isoenen_US
dc.publisherSpringeren_US
dc.relation.ispartofEuropean Spine Journalen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.snmz20240519_kaen_US
dc.subjectKlippel-Feil Syndromeen_US
dc.subjectScoliosisen_US
dc.subjectFused Vertebraen_US
dc.subjectSpine Mrien_US
dc.subjectWasp-Waist Signen_US
dc.subjectOmovertebral Boneen_US
dc.titleKlippel-Feil syndrome: Should additional examination be conducted?en_US
dc.typeArticleen_US

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