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World J Stomatol. May 20, 2015; 4(2): 81-86
Published online May 20, 2015. doi: 10.5321/wjs.v4.i2.81
Klippel-feil: A syndrome in the occipital-cervical spine field and its dentofacial manifestations
Trine G Michelsen, Pernille B Brusgaard, Liselotte Sonnesen
Trine G Michelsen, Pernille B Brusgaard, Liselotte Sonnesen, Orthodontics, Department of Odontology, Faculty of Health and Medical Sciences, University of Copenhagen, DK-2200 Copenhagen N, Denmark
Author contributions: Michelsen TG, Brusgaard PB and Sonnesen L had substantial contributed to conception and design of the study, acquisition of data, drafting the article and final approval of this version of the article; furthermore, Sonnesen L had made critical revisions related to important intellectual content of the manuscript.
Conflict-of-interest: There is no conflict of interest.
Open-Access: This article is an open-access article which was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/4.0/
Correspondence to: Liselotte Sonnesen, Associate Professor, Orthodontics, Department of Odontology, Faculty of Health and Medical Sciences, University of Copenhagen, 20 Nørre Allé, DK-2200 Copenhagen N, Denmark. alson@sund.ku.dk
Telephone: +45-35-326670 Fax: +45-35-326760
Received: September 24, 2014
Peer-review started: September 26, 2014
First decision: December 17, 2014
Revised: January 7, 2015
Accepted: February 4, 2015
Article in press: February 6, 2015
Published online: May 20, 2015
Processing time: 238 Days and 18.9 Hours
Abstract

Klippel-Feil syndrome (KFS) is defined by congenital cervical vertebral spine fusion and is seen with a wide spectrum of dental manifestations and craniofacial profiles. Previous studies on lateral cephalograms have documented an association between fusion of the cervical vertebrae and deviations in the craniofacial profile in non-syndromic patients with severe malocclusion. To our knowledge, no previous studies have described the craniofacial profile including the cranial base of KFS patients on lateral cephalograms. Therefore KFS and its craniofacial and dental manifestations were described according to existing literature and additionally the craniofacial profile and cranial base was analysed on lateral cephalograms of two patients with KFS. According to the literature the dental manifestations of KFS-patients included oligodontia, overjet, cross bite, open bite and deep bite. The craniofacial profile was clinically described as reduced lower facial height, midfacial hypoplasia, and mandibular prognathia. The analyses of the two lateral cephalograms showed increased mandibular inclination, increased vertical jaw-relationship, increased jaw angle and maxillary retrognathia. The cranial base was normal in both cases. The sagittal jaw relationship and mandibular prognathia varied between the two cases. The literature review and the analyses of the two lateral cephalograms have shown that deviations in the occipital and cervical spine field as KFS were associated with deviations in the teeth and craniofacial profile.

Keywords: Occipital and cervical spine field; Klippel-Feil syndrome; Notochord; Embryology; Cervical column morphology; Malocclusion

Core tip: Klippel-Feil syndrome (KFS) is defined by congenital cervical vertebral spine fusion and is seen with a wide spectrum of dental manifestations and craniofacial profiles. According to the literature dental manifestations of KFS-patients included oligodontia, horizontal maxillary overjet, cross bite, open bite and deep bite. The craniofacial profile was clinically described as reduced lower facial height, midfacial hypoplasia, and mandibular prognathia. Furthermore, two cases showed increased mandibular inclination, increased vertical jaw-relationship, increased jaw angle and maxillary retrognathia. The literature review and case analyses showed that deviations in the occipital and cervical spine field as KFS were associated with dentofacial deviations.