title: An Unusual Case of Peters Plus Syndrome with Sexual Ambiguity and Absence of Mutations in the B3GALTL Gene.
abstract: 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.
  
  
  METHODS
  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.
  
  
  CONCLUSIONS
  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.
authors.affiliation: Laboratoire de Génétique Moléculaire Humaine, Faculté de Médecine de Sfax, Tunisia.
authors.forename: Olfa
authors.initials: O
authors.lastname: Siala
authors.affiliation: Laboratoire de Génétique Médicale, EPS Hédi Chaker, Sfax, Tunisia.
authors.forename: Neila
authors.initials: N
authors.lastname: Belguith
authors.affiliation: Laboratoire de Génétique Moléculaire Humaine, Faculté de Médecine de Sfax, Tunisia.
authors.forename: Faiza
authors.initials: F
authors.lastname: Fakhfakh
keywords: Ambiguous Genitalia; B3GALTL Protein; Facial Dysmorphism with Multiple Malformations; Human; Peters-Plus Syndrome