Craniofacial Morphology of Children with Williams Syndrome

Mass, Eliyahu; Belostoky, Leon

doi:10.1597/1545-1569_1993_030_0343_cmocww_2.3.co_2

Cited by 10 publications

(2 citation statements)

References 17 publications

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“…The skeletal planes were hyperdivergent, although total anterior facial height was normal. Despite the normal total anterior facial height, there was an unusual proportion of upper to lower anterior facial height and posterior to anterior facial height [116]. In 17 individuals the most affected parameters were those regarding the mandibular incisors [117].…”

Section: Q112 Deletion Syndrome (Omim 611867)mentioning

confidence: 98%

Cephalometric Evaluation of Children with Short Stature of Genetic Etiology. A Review

Paltoglou,

Ziakas,

Chrousos

et al. 2024

Preprint

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Introduction: A plethora of biological molecules regulate chondrogenesis in the epiphyseal growth plate. Disruptions of quantity and function of these molecules can manifest clinically as stature abnormalities of various etiologies. Traditionally, the growth hormone/insulin-like growth factor 1 (IGF1) axis represents the etiological center of final stature attainment. Of note, little is known about the molecular events that dominate the growth of the craniofacial complex and its correlation with somatic stature. Aim: Given the paucity of the relevant data, this review discusses available information regarding potential applications of lateral cephalometric radiography as a potential clinical indicator of genetic short stature in children. Materials and Methods: A literature search was conducted in the PubMed electronic database using the key words: cephalometric analysis and short stature; cephalometric analysis and achondroplasia; cephalometric analysis and hypochondroplasia; cephalometric analysis and skeletal abnormalities; cephalometr* and SHOX; cephalometr* and CNP; cephalometr* and ACAN; cephalometr* and CNVs; cephalometr* and IHH; cephalometr* and FGFR3; cephalometr* and Noonan syndrome; cephalometr* and “Turner syndrome”; cephalometr* and achondroplasia. Results: In individuals with genetic syndromes causing short stature, linear growth of the craniofacial complex is confined, following the pattern of somatic short stature regardless of its etiology. The angular cephalometric measurements differ from the average height normal individuals and are suggestive of a posterior placement of the jaws and a vertical growth pattern of the face. Conclusion: The greater part of the existing literature regarding cephalometric measurements in short statured children with genetic syndromes provides qualitative data. Furthermore, cephalometric data for individuals affected with specific rare genetic conditions causing short stature, should be the focus of future studies. These quantitative data are required to potentially establish cut-off values to refer for genetic testing based on craniofacial phenotypes.

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Section: Q112 Deletion Syndrome (Omim 611867)mentioning

confidence: 98%

Cephalometric Evaluation of Children with Short Stature of Genetic Etiology. A Review

Paltoglou,

Ziakas,

Chrousos

et al. 2024

Preprint

View full text Add to dashboard Cite

show abstract

“…These may potentially influence the validity and/or reliability of EFE recognition methodologies (both human and automated ratings) in these groups. The three aspects are as follows: (1) the congruence of facial emotions, i.e., the adequacy of an EFE in a specific context [9,43]; (2) the match between the emotion subjectively experienced and the corresponding facial expression [44]; (3) facial morphology [45,46].…”

Section: Introductionmentioning

confidence: 99%

Test–Retest Reliability in Automated Emotional Facial Expression Analysis: Exploring FaceReader 8.0 on Data from Typically Developing Children and Children with Autism

et al. 2022

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Automated emotional facial expression analysis (AEFEA) is used widely in applied research, including the development of screening/diagnostic systems for atypical human neurodevelopmental conditions. The validity of AEFEA systems has been systematically studied, but their test–retest reliability has not been researched thus far. We explored the test–retest reliability of a specific AEFEA software, Noldus FaceReader 8.0 (FR8; by Noldus Information Technology). We collected intensity estimates for 8 repeated emotions through FR8 from facial video recordings of 60 children: 31 typically developing children and 29 children with autism spectrum disorder. Test–retest reliability was imperfect in 20% of cases, affecting a substantial proportion of data points; however, the test–retest differences were small. This shows that the test–retest reliability of FR8 is high but not perfect. A proportion of cases which initially failed to show perfect test–retest reliability reached it in a subsequent analysis by FR8. This suggests that repeated analyses by FR8 can, in some cases, lead to the “stabilization” of emotion intensity datasets. Under ANOVA, the test–retest differences did not influence the pattern of cross-emotion and cross-group effects and interactions. Our study does not question the validity of previous results gained by AEFEA technology, but it shows that further exploration of the test–retest reliability of AEFEA systems is desirable.

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Modeling age‐specific facial development in Williams–Beuren‐, Noonan‐, and 22q11.2 deletion syndromes in cohorts of Czech patients aged 3–18 years: A cross‐sectional three‐dimensional geometric morphometry analysis of their facial gestalt

Čaplovičová

Moslerová

Dupej

et al. 2018

American J of Med Genetics Pt A

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Three-dimensional (3D) virtual facial models facilitate genotype-phenotype correlations and diagnostics in clinical dysmorphology. Within cross-sectional analysis of both genders we evaluated facial features in representative cohorts of Czech patients with Williams-Beuren-(WBS; 12 cases), Noonan-(NS; 14), and 22q11.2 deletion syndromes (22q11.2DS; 20) and compared their age-related developmental trajectories to 21 age, sex and ethnically matched controls in 3-18 years of age. Using geometric morphometry statistically significant differences in facial morphology were found in all cases compared to controls. The dysmorphic features observed in WBS were specific and manifested in majority of cases. During ontogenesis, dysmorphic features associated with increased facial convexity become more pronounced whereas other typical features remained relatively stable. Dysmorphic features observed in NS cases were mostly apparent during childhood and gradually diminished with age. Facial development had a similar progress as in controls, while there has been increased growth of patients' nose and chin in adulthood. Facial characteristics observed in 22q11.2DS, except for hypoplastic alae nasi, did not correspond with the standard description of its facial phenotype because of marked facial heterogeneity of this clinical entity. Because of the sensitivity of 3D facial morphometry we were able to reach statistical significance even in smaller retrospective patient cohorts, which proves its clinical utility within the routine setting. K E Y W O R D S 22q11.2 deletion syndrome, 3D facial gestalt analysis, 3D imaging, dysmorphology, facial shape and size, geometric morphometry, Noonan syndrome, ontogenetic trajectory, Williams-Beuren syndrome

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Craniofacial Morphology of Children with Williams Syndrome

Cited by 10 publications

References 17 publications

Cephalometric Evaluation of Children with Short Stature of Genetic Etiology. A Review

Cephalometric Evaluation of Children with Short Stature of Genetic Etiology. A Review

Test–Retest Reliability in Automated Emotional Facial Expression Analysis: Exploring FaceReader 8.0 on Data from Typically Developing Children and Children with Autism

Modeling age‐specific facial development in Williams–Beuren‐, Noonan‐, and 22q11.2 deletion syndromes in cohorts of Czech patients aged 3–18 years: A cross‐sectional three‐dimensional geometric morphometry analysis of their facial gestalt

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