Three malformation complexes related to neural crest development.

摘要

We present an individual with three distinct malformation complexes, DiGeorge syndrome, CHARGE association and Dandy-Walker malformation. An extensive literature review has shown that DiGeorge syndrome and CHARGE association rarely occur simultaneously. The presence of both these malformation complexes with Dandy-Walker malformation has not been previously reported. These three malformation complexes may all be related by neural crest maldevelopment.