Ontology highlight
ABSTRACT:
SUBMITTER: Castro A
PROVIDER: S-EPMC3229409 | biostudies-literature | 2011
REPOSITORIES: biostudies-literature
Castro Ana A Rodrigues Nádia N Pereira Marco M Gonçalves Cláudia C
BMJ case reports 20111123
Polymicrogyria (PMG) is a malformation of cortical development due to an abnormal organisation. It is a heterogeneous disorder associated with genetic and acquired events, namely 22q11.2 deletion syndrome also known as DiGeorge syndrome (DGS) /velocardiofacial syndrome (VCFS) among others. This association has been known since 1996 and more than 30 cases have been described. Neurological features include motor and cognitive impairment, epilepsy, microcephaly and spasticity. The authors present a ...[more]