EDAR, LYPLAL1, PRDM16, PAX3, DKK1, TNFSF12, CACNA2D3, and SUPT3H gene variants influence facial morphology in a Eurasian population. Y Li, W Zhao, D Li et al.

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Date: April 2019. Source: Human Genetics 138, 681–689 (2019). https://doi.org/10.1007/s00439-019-02023-7. Abstract: In human society, the facial surface is visible and recognizable based on the facial shape variation which represents a set of highly polygenic and correlated complex traits. Understanding the genetic basis underlying facial shape traits has important implications in population genetics, developmental biology, and…

Linking the Expression of Facial Shape and BMI via the Hippo Signaling Pathway. S Ali, DE Ehrlich, LM Moreno Uribe, BA Amendt, MK Lee, JR Shaffer, ML Marazita, SM Weinberg, SF Miller.

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Date: April 2019. Source: The FASEB Journal, Vol. 33, No. 1_supplement. Abstract: Obesity rates have more than tripled in children and adolescents in recent years. While many studies have examined the relationship between obesity and chronic illnesses, the impact of obesity on craniofacial form is less understood. Research in this area has suggested that obesity…

A Morphometric Assessment of the Influence of EGCG on Down Syndrome Facial Morphology. J Cintron, M Dierssen, R Gonzalez, J Sharpe, N Martinez-Abadias, J Starbuck.

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Date: April 2019. Source: The FASEB Journal, Vol 33, No. 1_supplement. Abstract: Down syndrome (DS) is a genetic birth defect that results from Trisomy 21, which causes an overexpression of human chromosome 21 (HSA21) genes. Overexpressed HSA21 genes disturb development by altering morphogenesis and growth, resulting in cognitive impairment, characteristic facial morphology, and many other…

Cognitive Outcomes and Positional Plagiocephaly. BR Collett, ER Wallace, D Kartin, ML Cunningham, ML Speltz.

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Date: February 2019. Source: Pediatrics, 143 (2) e20182373; DOI: https://doi.org/10.1542/peds.2018-2373. Background: Studies have revealed an association between positional plagiocephaly and/or brachycephaly (PPB) and development, although little is known about long-term outcomes. We examined cognition and academic achievement in children with and without PPB, testing the hypothesis that children who had PPB as infants would score…

Associations Between Genetic Data and Quantitative Assessment of Normal Facial Asymmetry. S Rolfe, SI Lee, L Shapiro.

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Date: December 2018. Source: Frontiers in Genetics, VOLUME 9, p 659. DOI=10.3389/fgene.2018.00659. Abstract: Human facial asymmetry is due to a complex interaction of genetic and environmental factors. To identify genetic influences on facial asymmetry, we developed a method for automated scoring that summarizes local morphology features and their spatial distribution. A genome-wide association study using…

Measuring digit lengths with 3D digital stereophotogrammetry: A comparison across methods. A Gremba, SM Weinberg.

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Date: July/August 2018. Source: American Journal of Human Biology, Volume 30, Issue 4. Objective: We compared digital 3D stereophotogrammetry to more traditional measurement methods (direct anthropometry and 2D scanning) to capture digit lengths and ratios. Methods: The length of the second and fourth digits was measured by each method and the second‐to‐fourth ratio was calculated.…

Evaluation of facial asymmetry in patients with juvenile idiopathic arthritis: Correlation between hard tissue and soft tissue landmarks. S Economou, P Stoustrup, KD Kristensen, M Dalstra, A Küseler, T Herlin, TK Pedersen.

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Date: May 2018. Source: American Journal of Orthodontics and Dentofacial Orthopedics, Volume 153, Issue 5, Pages 662–672. Hightlights: • Soft-tissue and hard-tissue asymmetries in JIA patients are correlated. • In JIA patients, asymmetries are most pronounced in the lower facial third. • Glabella had the least deviation. • Pogonion presented the largest level of deviation.…

Comparison of an unsupervised machine learning algorithm and surgeon diagnosis in the clinical differentiation of metopic craniosynostosis and benign metopic ridge. MJ Cho, RR Hallac, M Effendi, JR Seaward, AA Kane.

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Date: April 2018. Source: Scientific Reports, Volume 8, Article number: 6312. Abstract: Metopic suture closure can manifest as a benign metopic ridge (BMR), a variant of normal, to “true” metopic craniosynostosis (MCS), which is associated with severe trigonocephaly. Currently, there is no gold standard for how much associated orbitofrontal dysmorphology should trigger surgical intervention. In…

Genetics of the human face: Identification of large-effect single gene variants. DJM Crouch, B Winney, WP Koppen, WJ Christmas, K Hutnik, T Day, D Meena, A Boumertit, P Hysi, A Nessa, TD Spector, J Kittler, WF Bodmer.

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Date: January 2018. Source: People of the British Isles, Newsletter Issue 7. Abstract: We have been studying the genetics underlying human facial features since the renewal of our PoBI grant from the Wellcome Trust in 2009. We have been doing this by going back to as many of the original volunteers as we could to…

Genetics of the human face: Identification of large-effect single gene variants. DJM Crouch, B Winney, WP Koppen, WJ Christmas, K Hutnik, T Day, D Meena, A Boumertit, P Hysi, A Nessa, TD Spector, J Kittler, WF Bodmer.

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Date: October 2017 Source: PNAS | Proceedings of the National Academy of Sciences of the United States of America, doi: 10.1073/pnas.1708207114. Significance: The human face is extraordinarily variable, and the extreme similarity of the faces of identical twins indicates that most of this variability is genetically determined. We have devised an approach to increase the…