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.