7 fev 1912 ano - Crouzon syndrome

Descrição:

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

Adicionado na linha do tempo:

Data: