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1. FGFR2 directs inhibition of WNT signaling to regulate anterior fontanelle closure during skull development

   Bobzin, Lauren; Nickle, Audrey; Ko, Sebastian; Ince, Michaela; Huang, Aaron; Bhojwani, Arshia; Roberts, Ryan; Merrill, Amy E.. Development. vol. 152(2), dev204264. January 2025.

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   The calvarial bones of the infant skull are linked by transient fibrous joints known as sutures and fontanelles, which are essential for skull compression during birth and expansion during postnatal brain growth. Genetic conditions caused by pathogenic variants in FGFR2, such as Apert, Pfeiffer, and Crouzon syndromes, result in calvarial deformities due to premature suture fusion and a persistently open anterior fontanelle (AF). In this study, we investigated how Fgfr2 regulates AF closure by leveraging mouse genetics and single-cell transcriptomics. We find that AF cells, marked by the tendon/ligament factor SCX, are spatially organized into ecto- and endocranial domains that selectively differentiate into ligament, bone, and cartilage to form the posterior frontal suture. We show that AF cell differentiation is non-autonomously regulated by FGFR2 signaling in osteogenic front cells of the frontal bones, which regulate WNT signaling in neighboring AF cells by expressing the secreted WNT inhibitor Wif1. Upon loss of Fgfr2, Wif1 expression is downregulated, and AF cells fail to form the posterior frontal suture. This study identifies an FGF-WNT signaling circuit that that directs suture formation within the AF during postnatal development.

2. Quantitative analysis of facial shape in children to support respirator design

   Nemeth, Christopher; Hoskens, Hanne; Wilson, Graham; Jones, Mike; DiPietrantonio, Josef; Salami, Bukola; Harnish, Del; Claes, Peter; Weinberg, Seth M.; Shriver, Mark D.; Hallgrímsson, Benedikt. Applied Ergonomics. vol. 122, 104375. 2025.

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   The COVID-19 pandemic demonstrated the need for respiratory protection against airborne pathogens. Respirator options for children are limited, and existing designs do not consider differences in facial shape or size. We created a dataset of children’s facial images from three cohorts, then used geometric morphometric analyses of dense and sparse facial landmark representations to quantify age, sex and ancestry-related variation in shape. We found facial shape and size in children vary significantly with age from ages 2 to 18, particularly in dimensions relevant to respirator design. Sex differences are small throughout most of the age range of our sample. Ancestry is associated with significant facial shape variation in dimensions that may affect respirator fit. We offer guidance on how to our results can be used for the appropriate design of devices such as respirators for pediatric populations. We also highlight the need to consider ancestry-related variation in facial morphology to promote equitable, inclusive products.

3. Syndrome-informed phenotyping identifies a polygenic background for achondroplasia-like facial variation in the general population

   Vanneste, Michiel; Hoskens, Hanne; Goovaerts, Seppe; Matthews, Harold; Devine, Jay; Aponte, Jose D.; Cole, Joanne; Shriver, Mark; Marazita, Mary L.; Weinberg, Seth M.; Walsh, Susan; Richmond, Stephen; Klein, Ophir D.; Spritz, Richard A.; Peeters, Hilde; Hallgrímsson, Benedikt; Claes, Peter. Nature Communications. vol. 15(1), 10458. December 2024.

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