A Comparative Study of Facial Asymmetry in Philippine, Colombian, and Ethiopian Families with Nonsyndromic Cleft Lip Palate (original) (raw)
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Journal of Anatomy, 2014
Family relatives of children with nonsyndromic cleft lip with or without cleft palate (NSCL/P) who presumably carry a genetic risk yet do not manifest overt oral clefts, often present with distinct facial morphology of unknown genetic etiology. This study investigates distinct facial morphology among unaffected relatives and examines whether candidate genes previously associated with overt NSCL/P and left-right body patterning are correlated with such facial morphology. Cases were unaffected relatives of individuals with NSCL/P (n = 188) and controls (n = 194) were individuals without family history of NSCL/P. Cases and controls were genotyped for 20 SNPs across 13 candidate genes for NSCL/P (PAX7, ABCA4-ARHGAP29, IRF6, MSX1, PITX2, 8q24, FOXE1, TGFB3 and MAFB) and left-right body patterning (LEFTY1, LEFTY2, ISL1 and SNAI1). Facial shape and asymmetry phenotypes were obtained via principal component analyses and Procrustes analysis of variance from 32 coordinate landmarks, digitized on 3D facial images. Case-control comparisons of phenotypes obtained were performed via multivariate regression adjusting for age and gender. Phenotypes that differed significantly (P < 0.05) between cases and controls were regressed on the SNPs one at a time. Cases had significantly (P < 0.05) more profile concavity with upper face retrusion, upturned noses with obtuse nasolabial angles, more protrusive chins, increased lower facial heights, thinner and more retrusive lips and more protrusive foreheads. Furthermore, cases showed significantly more directional asymmetry compared to controls. Several of these phenotypes were significantly associated with genetic variants (P < 0.05). Facial height and width were associated with SNAI1. Midface antero-posterior (AP) projection was associated with LEFTY1. The AP position of the chin was related to SNAI1, IRF6, MSX1 and MAFB. The AP position of the forehead and the width of the mouth were associated with ABCA4-ARHGAP29 and MAFB. Lastly, facial asymmetry was related to LEFTY1, LEFTY2 and SNAI1. This study demonstrates that, genes underlying lip and palate formation and left-right patterning also contribute to facial features characteristic of the NSCL/P spectrum.
Orthodontics & Craniofacial Research - ORTHOD CRANIOFAC RES, 2002
Objective-To determine if Chinese individuals with non syndromic cleft lip with or without cleft palate (CL/P) display more dermatoglyphic asymmetry than unaffected relatives or controls. Design-Case-control study with two control groups (genetically related and unrelated). Setting and Sample Population-A total of 500 CL/P probands from Shanghai, China, 421 unaffected relatives, and 66 controls of Chinese heritage. Methods-Finger and palm prints were collected, and pattern frequencies, total ridge counts (TRC), and atd angles were calculated. Asymmetry scores between right and left hands were defined for each of the three dermatoglyphic measures. Probands' asymmetry scores were compared statistically with the scores of unaffected relatives and controls. Results-In general, the probands' asymmetry scores for TRC and atd angle did not differ significantly from the scores of either unaffected relatives or controls. However, probands with a positive family history of clefting showed significantly more asymmetry in their pattern types than either probands without a family history, unaffected relatives or controls. Conclusion-These results suggest that a unique genetic mechanism of developmental instability may obtain in CL/P individuals with a positive family history of clefting.
Longitudinal 3D Assessment of Facial Asymmetry in Unilateral Cleft Lip and Palate
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association, 2018
Longitudinal evaluation of asymmetry of the surgically managed unilateral cleft lip and palate (UCLP) to assess the impact of facial growth on facial appearance. Prospective study. Glasgow Dental Hospital and School, University of Glasgow, United Kingdom Patients: Fifteen UCLP infants. The 3-D facial images were captured before surgery, 4 months after surgery, and at 4-year follow-up using stereophotogrammetry. A generic mesh which is a mathematical facial mask that consists of thousands of points (vertices) was conformed on the generated 3-D images. Using Procustean analysis, an average facial mesh was obtained for each age-group. A mirror image of each average mesh was mathematically obtained for the analysis of facial dysmorphology. Facial asymmetry was assessed by measuring the distances between the corresponding vertices of the original and the mirror copy of the conformed meshes, and this was displayed in color-coded map. There was a clear improvement in the facial asymmetry f...
Regional facial asymmetries in unilateral orofacial clefts
European journal of orthodontics, 2015
Summary OBJECTIVES : Assess facial asymmetry in subjects with unilateral cleft lip (UCL), unilateral cleft lip and alveolus (UCLA), and unilateral cleft lip, alveolus, and palate (UCLP), and to evaluate which area of the face is most asymmetrical. Standardized three-dimensional facial images of 58 patients (9 UCL, 21 UCLA, and 28 UCLP; age range: 8.6-12.3 years) and 121 controls (age range 9-12 years) were mirrored and distance maps were created. Absolute mean asymmetry values were calculated for the whole face, cheek, nose, lips, and chin. One-way analysis of variance, Kruskal-Wallis, and t-test were used to assess the differences between clefts and controls for the whole face and separate areas. Clefts and controls differ significantly for the whole face as well as in all areas. Asymmetry is distributed differently over the face for all groups. In UCLA, the nose was significantly more asymmetric compared with chin and cheek (P = 0.038 and 0.024, respectively). For UCL, significant...
Facial morphometrics of children with NON-syndromic orofacial clefts in Tanzania
BMC Oral Health, 2014
Background: Orofacial clefts (cleft lip/palate; CL/P) are among the most common congenital anomalies, with prevalence that varies among different ethnic groups. Craniofacial shape differences between individuals with CL/P and healthy controls have been widely reported in non-African populations. Knowledge of craniofacial shape among individuals with non-syndromic CL/P in African populations will provide further understanding of the ethnic and phenotypic variation present in non-syndromic orofacial clefts.
American Journal of Orthodontics and Dentofacial Orthopedics, 2014
Introduction: In this study, we compared patterns of morphologic variations of the craniofacial skeleton between patients affected by clefts who were operated on and unaffected subjects, aiming to discuss possible morphofunctional consequences of treatment in craniofacial development. Methods: The lateral cephalograms of 76 subjects, comprising patients with operated unilateral cleft lip and palate (OpC) and a group matched for sex and age without cleft, were used. Thirteen landmarks were used as variables in geometric morphometric tests quantifying and describing overall shape variation, differences between group means, allometry, and upperlower face covariation. Results: The OpC group showed broader shape variations including noncleft group characteristics, but mainly a retrognathic maxilla, a vertically elongated face, a more open mandibular angle, and a more closed basicranial angle. Group means differed mainly in the maxillomandibular relationships. Allometry differed between groups, with the smallest OpC patients showing the most altered morphology. Upper and lower face covariation was stronger in the OpC group, showing mainly vertical changes in the anterior face. Conclusions: Operated patients affected by clefts achieve a broad range of morphologies; the most altered were found in those with skeletal Class III and small size. Furthermore, their strongest upper and lower face shape covariation suggests that a harmonic dental occlusion could be a key factor in achieving "normal" craniofacial morphology. (Am J Orthod Dentofacial Orthop 2014;146:346-54) C lefts of the lip and palate (CLP) are common congenital anomalies. The incidence is highly variable among populations. The highest incidence is found in Asians and Native Americans, with 1 in 500 live births, and the lowest in Africans, with 1 in 2500 births; white, Hispanic, and Latin populations (among these, Chileans) have intermediate incidence of 1 in 1000 live births. 1-4 Cleft etiology is multifactorial, comprising both genetic and environmental factors acting during intrauterine development. 5-7 Unilateral CLP (UCLP) is the most common cleft type. 5,8 Morphologic alterations of operated patients with UCLP have been widely reported in the literature, of which changes in maxillomandibular relationship are the most prevalent, as described below. Since unoperated subjects have the potential to develop a "normal" (ie, skeletal Class I) maxillomandibular relationship, 9,10 it has been proposed that altered maxillomandibular relationships are caused by the effect of surgery, particularly lip closure, on the developing bone and sutures. 11-13 This has led to the proposal of different protocols for the surgical management of CLP that concur in the importance of reconstructing the muscular anatomy of the lip and the soft palate after the third month of age. 12,14-16 Despite the differences in surgical approaches and treatment protocols, the morphologic features in operated patients with UCLP tend to be uniform. In general,
Journal of Anatomy, 2019
In subjects with orofacial clefts, there is an unresolved controversy on the effect of congenital maxillary growth deficiency vs. the effect of surgical intervention on the outcome of treatment. Intrinsic growth impairment in subjects with orofacial clefts can be studied by comparing facial morphology of subjects with untreated cleft and unaffected individuals of the same ethnic background. Bilateral cleft lip and palate is the most severe and least prevalent form of the orofacial cleft. The aim of this study was to compare facial morphology in subjects with unrepaired complete bilateral clefts and unaffected controls using geometric morphometrics. Lateral cephalograms of 39 Indonesian subjects with unrepaired bilateral complete cleft lip and alveolus (mean age: 24 years), or unrepaired bilateral complete cleft lip, alveolus, and palate (mean age: 20.6 years) and 50 age and ethnically matched controls without a cleft (25 males, 25 females, mean age: 21.2 years) were digitized and tr...