An Unusual Case of Peters Plus Syndrome with Sexual Ambiguity and Absence of Mutations in the B3GALTL Gene

Background: 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. case presentation: 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. conclusion: 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.