El Sergani, Ahmed M.
(2020)
Three-dimensional Analysis of Palatal Morphology in the Unaffected Relatives of Individuals with Non-syndromic Orofacial Clefting.
Doctoral Dissertation, University of Pittsburgh.
(Unpublished)
Abstract
Subclinical endophenotypes in biological relatives of individuals with non-syndromic orofacial clefts have been the subject of extensive investigation. The rationale for studying these endophenotypes is that they may assist in the identification of genetic risk factors being passed down within families. Cleft endophenotypes include characteristic craniofacial morphological patterns that have been identified in the midface region (e.g. increased midface retrusion). Since the secondary palate is an integral part of the nasomaxillary complex, we hypothesized that palate shape could be an important endophenotypic risk marker. We therefore analyzed 3D palatal morphology using landmark-based morphometric approaches (geometric morphometrics and EDMA). To accomplish this, physical dental impressions were obtained, scanned as 3D surface models, and landmarked with seven points. Our cohort (N=935) included 141 unaffected biological parents of individuals with non-syndromic orofacial clefting and 794 demographically matched controls from three ancestral groups. We first analyzed normal palatal morphological patterns in controls and found an association between a higher palatal vault and deficient sagittal and/or transverse dimensions. These findings agree with previous reports from 2D cephalometry. We also found sex and ancestry differences in palate shape among controls (p≤.0148). By sex, males had wider transverse and shorter sagittal dimensions with higher posterior vaults than females, who had higher anterior vaults. By ancestry, Africans had overall highest vaults while Asians had the shallowest. Europeans had longer sagittal and narrower transverse dimensions with higher anterior vaults than other ancestries. We also analyzed those sex- and ancestry-specific patterns in the unaffected cleft parent population and found that ancestry-specific differences were less distinct between fathers, and sex-specific differences were less distinct between mothers and fathers. Comparing the unaffected parents to controls, differences in palate shape were limited to females (p≤.0093). Furthermore, some of these shape differences were ancestry specific. In comparison to controls, European mothers had narrower transverse and longer sagittal dimensions with higher anterior vaults, while Asian mothers had wider transverse dimensions and retruded anterior palates. Although preliminary, our findings may pave the way for advanced and more sophisticated genetic and morphometric analyses that would aid in dissecting the genetic etiology of orofacial clefting.
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Details
| Item Type: |
University of Pittsburgh ETD
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| Status: |
Unpublished |
| Creators/Authors: |
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| ETD Committee: |
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| Date: |
13 July 2020 |
| Date Type: |
Publication |
| Defense Date: |
21 May 2020 |
| Approval Date: |
13 July 2020 |
| Submission Date: |
28 May 2020 |
| Access Restriction: |
No restriction; Release the ETD for access worldwide immediately. |
| Number of Pages: |
223 |
| Institution: |
University of Pittsburgh |
| Schools and Programs: |
School of Dental Medicine > Dental Science |
| Degree: |
PhD - Doctor of Philosophy |
| Thesis Type: |
Doctoral Dissertation |
| Refereed: |
Yes |
| Uncontrolled Keywords: |
Oral Biology
Cleft Lip & Palate
Orofacial Clefting
Craniofacial Morphometrics |
| Date Deposited: |
13 Jul 2020 18:01 |
| Last Modified: |
13 Jul 2020 18:01 |
| URI: |
http://d-scholarship.pitt.edu/id/eprint/39126 |
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