%0 Journal Article
%T Unilateral Opercular Polymicrogyria in a Girl with 22q13 Deletion Syndrome
%A Duse M
%A Nicita F
%A Novelli A
%A Papetti L
%A Pimpolari L
%A Spalice A
%A Tarani L
%A Ursitti F
%A Zicari AM
%J International Pediatrics Journals| Child Care Journals| Peer Reviewed Articles
%D 2017
%X The 22q13 deletion syndrome, also known as Phelan-McDermid Syndrome (PMS), is a chromosomal microdeletion syndrome characterized by neonatal hypotonia, normal growth, profound developmental delay, absent or delayed speech, and minor dysmorphic features. Almost all of the 22q13 deletions published so far have been described as terminal. It is believed that the SHANK3 gene is the major candidate gene for the neurologic features of the syndrome. Neuroradiological findings in PMS include arachnoid cyst, delayed myelination, frontal lobe hypoplasia, hypogenesis of corpus callosum and ventriculomegaly. We describe a 3-year-old girl with severe developmental delay and right opercular polymicrogyria associated with 22q13.2 ¨C 22q13.33 deletion. Keywords: 22q13 deletion syndrome; Polymicrogyria; Phelan- McDermid syndrome; Cortical brain malformation
%U https://symbiosisonlinepublishing.com/pediatrics-childcare/pediatrics-child-care09.php