{Reference Type}: Case Reports
{Title}: CTNNB1 gene mutation associated with neurodevelopmental disorder, microcephaly, and persistence of bilateral hyperplastic primary vitreous: A case report and literature review.
{Author}: Zuluaga Gómez LM;Caballero Mojica SC;Vélez Rengifo GJ;Bravo Acosta JD;Montoya Villada JH;
{Journal}: Arch Soc Esp Oftalmol (Engl Ed)
{Volume}: 97
{Issue}: 1
{Year}: Jan 2022
暂无{DOI}: 10.1016/j.oftale.2020.11.018
{Abstract}: The most cases of persistence hyperplastic primary vitreous (PHPV) are unilateral and sporadic, however, bilateral presentation could be present in a small number of patients, in whom other genetic diseases must be ruled out. We describe a case of a 2 months child with bilateral persistence hyperplastic primary vitreous confirmed by ultrasound. In addition, with neurodevelopmental defects, microcephaly, facial dimorphism, axial hypotonia, and without brain abnormalities on MRI, in whom a de novo mutation of the CTNNB1 gene was found during the genetic study, which explains the findings.