unusual case of Peters Plus syndrome with sexual ambiguity and absence of mutations in the B3GALTL gene

ABSTRACT

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 beta -1,3-glucosyltransferase have been found in virtually all patients with typical Peters Plus syndrome. 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. 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