7 févr. 1912 - Crouzon syndrome
Description:
abnormal calvarial shape: in severe case can give a "cloverleaf skull"shallow orbits with exopthalmos
mid facial hypoplasia
bifid uvula
autosomal dominant inheritance due to a mutation in fibroblast growth factor receptor 2 (FGFR2) gene on chromosome 10q25-26.
It is named after L E Octave Crouzon, French physician
Ajouté au bande de temps:
Date:
7 févr. 1912
Maintenaint
~ Il y a 113 ans