E' una sindrome a trasmissione autosomica dominante, ad espressività variabile anche nella stessa famiglia, con caratteristiche simili ad altre craniosinostosi (S. di Crouzon, S. di Pfeiffer, S.di Apert); è dovuta ad alterazione del gene che codifica per FGFR2.
Segni ecografici sono craniosinostosi, ipoplasia medio-facciale, anomalie dei piedi con alluce grande.
Bibliografia
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