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

authors:

avatar Olfa Siala 1 , * , avatar Neila Belguith 2 , avatar Faiza Fakhfakh 3

Iranian Journal of Pediatrics: Vol.23, issue 4; 485-488
published online: July 23, 2013
article type: Case Report
received: November 09, 2011
accepted: May 19, 2012

how to cite: Siala O, Belguith N, Fakhfakh F. An Unusual Case of Peters Plus Syndrome with Sexual Ambiguity and Absence of Mutations in the B3GALTL Gene. Iran J Pediatr. 2013;23(4): 485-488. 

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. 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.
 

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