Miller-Dieker, syndrome

(Lissencephaly type I,  microgyria-pachygyria syndrome)

Monosomy of the short arm of chromosome 17p13. Lissencephaly (smooth cortical surface) associated with facial anomalies (microcephaly, high forehead with vertical folds, micrognathia, abnormal ears). Major developmental deficit. Seizures. Sometimes cardiac malformation


Anesthetic implications:

epilepsy. Possibly difficult intubation.


References : 


Updated: December 2018