Miller-dieker

Molecular Etiology

 * 17p13.3
 * Contiguous Gene Deletion Syndrome
 * LIS1 (PAFAH1B1) - involved in nerve cell migration
 * Isolated Lissencephaly Sequence: Essentially Miller-Dieker without Dysmorphia
 * YWHAE - involved in neuronal migration; binds to other proteins in process

Associated Birth Defects

 * Cardiac Defects
 * GenitourinaryAnomalies

Craniofacial Features

 * microcephaly
 * bitemporal narrowing
 * prominent forehead
 * upturned nose
 * small nose
 * vertical forehead creases when crying
 * thin lips
 * micrognathia

Neurological

 * neuronal migration defects
 * lissencephaly
 * pachygyria
 * heterotopia
 * agenesis of the corpus callosum or hypoplastic corpus callosum


 * hypotonia
 * seizures
 * Intellectual Disability = Severe

Endocrine/Growth

 * FTT
 * Feeding Difficulties

Prognosis

 * Mortality
 * Often <3 months
 * Majority <2 years
 * COD = Aspiration


 * Brief fixing/smiling
 * Nonspecific motor movements