{Reference Type}: Case Reports
{Title}: New insights into the phenotypic spectrum of 14q22q23 deletions: a case report and literature review.
{Author}: Pichiecchio A;Vitale G;Caporali C;Parazzini C;Milani D;Recalcati MP;D'Amico L;Signorini S;Balottin U;Bastianello S;
{Journal}: BMC Med Genomics
{Volume}: 11
{Issue}: 1
{Year}: Sep 2018 29
{Factor}: 3.622
{DOI}: 10.1186/s12920-018-0405-3
{Abstract}: <B>BACKGROUND: </B>Mutations occurring in the orthodenticle homeobox 2 gene (OTX2) are responsible for a rare genetic syndrome, characterized mainly by microphthalmia/anophthalmia associated with extra-ocular defects such as brain malformations, pituitary abnormalities, short stature and intellectual disability. To date, the spectrum of radiological features observed in patients with OTX2 mutations has never been summarized.<BR><B>METHODS: </B>In this report, we describe a case of large microdeletion encompassing OTX2 but not BMP4 presenting with a syndromic anophthalmia with corpus callosum hypoplasia, pituitary gland hypoplasia and vermian hypoplasia.<BR><B>CONCLUSIONS: </B>Our case report provides an illustration of the neuroradiological spectrum in a case of OTX2-related syndrome and the first radiological evidence of 14q22.2q23.1 deletion associated posterior cranial fossa anomalies.