{Reference Type}: Case Reports
{Title}: An Unusual Case of Peters Plus Syndrome with Sexual Ambiguity and Absence of Mutations in the B3GALTL Gene.
{Author}: Siala O;Belguith N;Fakhfakh F;
{Journal}: Iran J Pediatr
{Volume}: 23
{Issue}: 4
{Year}: Aug 2013
{Factor}: 0.625
{DOI}: 
{Abstract}: <B>BACKGROUND: </B>Peters Plus syndrome (MIM 261540) is a rare autosomal recessive condition characterized by ocular defects (typically Peters anomaly) and other systemic major/minor abnormalities. Mutations in the B3GALTL gene encoding the β-1,3-glucosyltransferase have been found in virtually all patients with typical Peters Plus syndrome.<BR><B>METHODS: </B>We report here a female patient with severe manifestations of Peters Plus syndrome including facial dysmorphism and bilateral corneal opacity associated with left renal pyelo-calicial dilatation and sexual ambiguity. Total sequencing of the B3GALTL gene revealed no mutation in the patient.<BR><B>CONCLUSIONS: </B>To our knowledge, sexual ambiguity has not previously been reported in Peters Plus syndrome so far, and renal malformation is also apparently rare in the syndrome.