University of Oulu

Craniofacial shape and dimensions as indicators of orofacial clefting and palatal form : a study on cleft lip and palate and Turner syndrome families

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Author: Perkiömäki, Marja Riitta1,2,3
Organizations: 1University of Oulu, Faculty of Medicine, Institute of Dentistry, Department of Oral Development and Orthodontics
2University of Rochester, Craniofacial Research Core, Eastman Department of Dentistry
3University of Liverpool, School of Dental Sciences, Edwards building
Format: ebook
Version: published version
Access: open
Online Access: PDF Full Text (PDF, 1.1 MB)
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Language: English
Published: 2008
Publish Date: 2008-10-07
Thesis type: Doctoral Dissertation
Defence Note: Academic dissertation to be presented, with the assent of the Faculty of Medicine of the University of Oulu, for public defence in Auditorium 1 of the Institute of Dentistry (Aapistie 3), on October 17th, 2008, at 12 noon
Reviewer: Professor David Rice
Docent Janna Waltimo-Sirén


The aim of this study was to define distinct craniofacial features in subjects with nonsyndromic cleft lip and palate (CLP) and in subjects with Turner syndrome (TS), and to evaluate the resemblance of these features among their family members. This might help in elucidating if there is a parental contribution to possible predisposing craniofacial features in cleft subjects and to the severity of certain distinct craniofacial features in subjects with X chromosome monosomy.

The study population consisted of 29 Costa Rican CLP families including unaffected parents and siblings, and of 71 TS (45,X) subjects and members of their families. Based on lateral and frontal cephalometric analyses, cleft family members were characterized by reduced cranial height and head width, greater interorbital and nasal cavity widths, shorter anterior cranial base and palatal lengths, and shorter total face height compared to control values. With respect to these distinct craniofacial features, there were statistically significant associations in anterior cranial base and palatal length, and head, forehead and outer interorbital width measurements between parents and their children with CLP. The sidedness of the cleft in affected children was related to the asymmetry of the nasal cavity width in their parents. The distinct craniofacial features of the TS subjects, such as short clivus, retrognathic position of mandible, and narrow maxilla at the level of first premolars were related to their mothers' corresponding features. The presence of lateral palatine ridges, which were detected in one third of the TS subjects, was related to the narrowness of the posterior palate rather than to the variation in the tongue position.

Distinct craniofacial features segregate in cleft family members. The several significant associations in distinct craniofacial dimensions between parents and children with CLP emphasize the importance of genetic factors in the genesis of nonsyndromic orofacial clefting. The present results support the concept that maternal factors contribute to the degree of deficiency in the growth of the cranial base and to the magnitude of mandibular retrognathism of their daughters with TS. Maternal influences may also modify the width of the palate in TS.

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Series: Acta Universitatis Ouluensis. D, Medica
ISSN-E: 1796-2234
ISBN: 978-951-42-8870-8
ISBN Print: 978-951-42-8869-2
Issue: 981
Copyright information: © University of Oulu, 2008. This publication is copyrighted. You may download, display and print it for your own personal use. Commercial use is prohibited.