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Cephalometrics in Stickler syndrome: Objectification of the typical facial appearance.
J Craniomaxillofac Surg. 2016 Jul; 44(7):848-53.JC

Abstract

INTRODUCTION

Stickler syndrome is a connective tissue disorder characterized by orofacial, ocular, skeletal and auditory symptoms. The orofacial phenotype mainly consists of midfacial hypoplasia, micrognathia and cleft palate. Large phenotypic variability is evident though. Few studies have tried to substantiate the typical facial appearance in Stickler syndrome patients.

METHODS

Molecularly confirmed Stickler patients were invited to undergo cephalometric analysis based on a lateral radiograph in standardized conditions. Angular and linear measurements were performed according to Steiner's and Sassouni's analysis and compared with age- and gender-matched reference values.

RESULTS

Thirteen patients aged 10-62y were included, twelve of whom had type 1 Stickler syndrome (COL2A1 mutation) and one type 2 Stickler syndrome (COL11A1 mutation). The position of maxilla and mandible relative to the cranial base was not significantly different from the reference population (S-N-A: p = 0.73, S-N-B: p = 0.43). The mandibular plane and y-axis showed an elevated angle with the cranial base in most patients, although not significant for the total group (S-N to Go-Me: p = 0.20, S-N to S-Gn: p = 0.18). Dental analysis was normal, except for a higher overjet value (p = 0.006) and a higher angle between occlusal plane and Frankfort plane (p = 0.022).

CONCLUSION

Cephalometric analysis was not able to thoroughly prove the abnormal facial appearance in Stickler syndrome. The majority of patients had normal dentofacial proportions. The most frequently observed anomaly in our series is a rather short and posteriorly rotated mandible, but clinical variability is high.

Authors+Show Affiliations

Department of Otorhinolaryngology, Ghent University/Ghent University Hospital, De Pintelaan 185, 9000 Ghent, Belgium. Electronic address: frederic.acke@ugent.be.Department of Otorhinolaryngology, Ghent University/Ghent University Hospital, De Pintelaan 185, 9000 Ghent, Belgium.Center for Medical Genetics, Ghent University/Ghent University Hospital, De Pintelaan 185, 9000 Ghent, Belgium.Department of Otorhinolaryngology, Ghent University/Ghent University Hospital, De Pintelaan 185, 9000 Ghent, Belgium.Department of Orthodontics, Ghent University/Ghent University Hospital, De Pintelaan 185, 9000 Ghent, Belgium.

Pub Type(s)

Journal Article

Language

eng

PubMed ID

27193475

Citation

Acke, Frederic R., et al. "Cephalometrics in Stickler Syndrome: Objectification of the Typical Facial Appearance." Journal of Cranio-maxillo-facial Surgery : Official Publication of the European Association for Cranio-Maxillo-Facial Surgery, vol. 44, no. 7, 2016, pp. 848-53.
Acke FR, Dhooge IJ, Malfait F, et al. Cephalometrics in Stickler syndrome: Objectification of the typical facial appearance. J Craniomaxillofac Surg. 2016;44(7):848-53.
Acke, F. R., Dhooge, I. J., Malfait, F., De Leenheer, E. M., & De Pauw, G. A. (2016). Cephalometrics in Stickler syndrome: Objectification of the typical facial appearance. Journal of Cranio-maxillo-facial Surgery : Official Publication of the European Association for Cranio-Maxillo-Facial Surgery, 44(7), 848-53. https://doi.org/10.1016/j.jcms.2016.04.010
Acke FR, et al. Cephalometrics in Stickler Syndrome: Objectification of the Typical Facial Appearance. J Craniomaxillofac Surg. 2016;44(7):848-53. PubMed PMID: 27193475.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Cephalometrics in Stickler syndrome: Objectification of the typical facial appearance. AU - Acke,Frederic R, AU - Dhooge,Ingeborg J, AU - Malfait,Fransiska, AU - De Leenheer,Els M R, AU - De Pauw,Guy A M, Y1 - 2016/04/15/ PY - 2015/09/20/received PY - 2016/02/23/revised PY - 2016/04/07/accepted PY - 2016/5/20/entrez PY - 2016/5/20/pubmed PY - 2017/11/7/medline KW - Cephalometrics KW - Micrognathia KW - Pierre Robin sequence KW - Stickler syndrome SP - 848 EP - 53 JF - Journal of cranio-maxillo-facial surgery : official publication of the European Association for Cranio-Maxillo-Facial Surgery JO - J Craniomaxillofac Surg VL - 44 IS - 7 N2 - INTRODUCTION: Stickler syndrome is a connective tissue disorder characterized by orofacial, ocular, skeletal and auditory symptoms. The orofacial phenotype mainly consists of midfacial hypoplasia, micrognathia and cleft palate. Large phenotypic variability is evident though. Few studies have tried to substantiate the typical facial appearance in Stickler syndrome patients. METHODS: Molecularly confirmed Stickler patients were invited to undergo cephalometric analysis based on a lateral radiograph in standardized conditions. Angular and linear measurements were performed according to Steiner's and Sassouni's analysis and compared with age- and gender-matched reference values. RESULTS: Thirteen patients aged 10-62y were included, twelve of whom had type 1 Stickler syndrome (COL2A1 mutation) and one type 2 Stickler syndrome (COL11A1 mutation). The position of maxilla and mandible relative to the cranial base was not significantly different from the reference population (S-N-A: p = 0.73, S-N-B: p = 0.43). The mandibular plane and y-axis showed an elevated angle with the cranial base in most patients, although not significant for the total group (S-N to Go-Me: p = 0.20, S-N to S-Gn: p = 0.18). Dental analysis was normal, except for a higher overjet value (p = 0.006) and a higher angle between occlusal plane and Frankfort plane (p = 0.022). CONCLUSION: Cephalometric analysis was not able to thoroughly prove the abnormal facial appearance in Stickler syndrome. The majority of patients had normal dentofacial proportions. The most frequently observed anomaly in our series is a rather short and posteriorly rotated mandible, but clinical variability is high. SN - 1878-4119 UR - https://www.unboundmedicine.com/medline/citation/27193475/Cephalometrics_in_Stickler_syndrome:_Objectification_of_the_typical_facial_appearance_ L2 - https://linkinghub.elsevier.com/retrieve/pii/S1010-5182(16)30019-1 DB - PRIME DP - Unbound Medicine ER -