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

Olfa Siala; Neila Belguith; Faiza Fakhfakh

IJ Pediatrics

The Scientific Journal of Growth & Development Research Center

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

Author(s):

Olfa Siala^1,*,

Neila Belguith²,

Faiza Fakhfakh³

IJ Pediatrics:Vol. 23, issue 4; 485-488

Published online:Jul 23, 2013

Article type:Case Report

Received:Nov 09, 2011

Accepted:May 19, 2012

How to Cite:Olfa SialaNeila BelguithFaiza FakhfakhAn Unusual Case of Peters Plus Syndrome with Sexual Ambiguity and Absence of Mutations in the B3GALTL Gene.Iran J Pediatr.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.

Keywords

Peters-Plus Syndrome

B3GALTL Protein

Human

Facial Dysmorphism with Multiple Malformations

Ambiguous Genitalia

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