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

AUTHORS

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

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.

ARTICLE INFORMATION

Iranian Journal of Pediatrics: 23 (4); 485-488
Published Online: July 23, 2013
Article Type: Case Report
Received: November 09, 2011
Accepted: May 19, 2012

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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.

 

Keywords

Peters-Plus Syndrome B3GALTL Protein Human Facial Dysmorphism with Multiple Malformations Ambiguous Genitalia

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