Mother and Daughter Carrying of the Same Pathogenic Variant in FGFR2 with Discordant Phenotype. F Lo Vecchio, E Tabolacci, V Nobile, MG Pomponi, R Pietrobono, G Neri, S Amenta, E Candida, C Grippaudo, E Lo Cascio et al.

Craniosynostosis are a heterogeneous group of genetic conditions characterized by the premature fusion of the skull bones. The most common forms of craniosynostosis are Crouzon, Apert and Pfeiffer syndromes.

Genetic variants underlying differences in facial morphology in East Asian and European populations. M Zhang, S Wu, S Du, et al.

Evolutionary analyses suggest that the difference in nose shape between EUR and EAS populations is caused by a directional selection, due mainly to a local adaptation in Europeans. Our results illustrate the underlying genetic basis for facial differences across populations.