Abnormal neuronal migration defect in the severe variant subtype of Adams-Oliver syndrome.

摘要

McGoey and Lacassie [2008] have reported Adams-Oliver syndrome (AOS, OMIM%100300) in siblings with central nervous system findings, epilepsy, and developmental delay and have refined the characteristics of the rare severe autosomal recessive AOS variant. Based on the review of nine individuals born to healthy parents, the features differentiating this severe variant from the classic autosomal dominant AOS have been considered psychomotor delay, epilepsy, and central nervous system (CNS) malformations.