Publication:
Heterogeneity in Klippel-Feil syndrome: a new classification

dc.contributor.author Clarke, Raymond en_US
dc.contributor.author Catalan, Gale en_US
dc.contributor.author Diwan, Ashish en_US
dc.contributor.author Kearsley, John en_US
dc.date.accessioned 2021-11-25T15:30:33Z
dc.date.available 2021-11-25T15:30:33Z
dc.date.issued 1998 en_US
dc.description.abstract Background. Klippel-Feil syndrome (KFS) is characterised by congenital vertebral fusion of the cervical spine and a wide spectrum of associated anomalies. KFS has often been considered a sporadic syndrome. However, since the publication of the original KFS classification early this century, a number of KFS families have indicated heterogeneity complicated by a broad range of variable expression. Objective. The two major objectives of this study were (1) to identify differences and similarities in the postnatal appearance, morphology, position and inheritance of vertebral fusions within and between KFS families and (2) to establish a new KFS classification focussed on KFS aetiology. Materials and methods. Vertebral fusions were assessed via spinal radiography. Chromosomal karyotypes were performed using routine cytogenetics. Results. The medical histories of three KFS families are presented. The postnatal time, position and appearance of vertebral fusions, associated anomalies and mode of inheritance were different for the three KFS families. Four classes of KFS are described in a comprehensive classification table that allays much of the uncertainty arising from KFS heterogeneity and variable expression. Conclusion. We have described four different KFS classes (KF1–4) within a comprehensive classification that addresses KFS genetic heterogeneity. The position of vertebral fusions in the cervical spine and their incidence within affected families are delineating features of KFS. en_US
dc.identifier.issn 0301-0449 en_US
dc.identifier.uri http://hdl.handle.net/1959.4/44653
dc.language English
dc.language.iso EN en_US
dc.rights CC BY-NC-ND 3.0 en_US
dc.rights.uri https://creativecommons.org/licenses/by-nc-nd/3.0/au/ en_US
dc.source Legacy MARC en_US
dc.title Heterogeneity in Klippel-Feil syndrome: a new classification en_US
dc.type Journal Article en
dcterms.accessRights metadata only access
dspace.entity.type Publication en_US
unsw.accessRights.uri http://purl.org/coar/access_right/c_14cb
unsw.identifier.doiPublisher http://dx.doi.org/10.1007/s002470050511 en_US
unsw.relation.faculty Medicine & Health
unsw.relation.ispartofissue 12 en_US
unsw.relation.ispartofjournal Paediatric Radiology en_US
unsw.relation.ispartofpagefrompageto 967-974 en_US
unsw.relation.ispartofvolume 28 en_US
unsw.relation.originalPublicationAffiliation Clarke, Raymond, Clinical School - St George Hospital, Faculty of Medicine, UNSW en_US
unsw.relation.originalPublicationAffiliation Catalan, Gale en_US
unsw.relation.originalPublicationAffiliation Diwan, Ashish, Clinical School - St George Hospital, Faculty of Medicine, UNSW en_US
unsw.relation.originalPublicationAffiliation Kearsley, John, Clinical School - St George Hospital, Faculty of Medicine, UNSW en_US
unsw.relation.school Clinical School St George Hospital *
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