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Iranian Journal of Pediatrics
Tehran University of Medical Sciences Press
ISSN: 1018-4406
EISSN: 2008-2150
Vol. 23, No. 4, 2013, pp. 485-488
Bioline Code: pe13091
Full paper language: English
Document type: Case Report
Document available free of charge

Iranian Journal of Pediatrics, Vol. 23, No. 4, 2013, pp. 485-488

 en An Unusual Case of Peters Plus Syndrome with Sexual Ambiguity and Absence of Mutations in the B3GALTL Gene
Siala, Olfa; Belguith, Neila & Fakhfakh, Faiza

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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Alternative site location: http://diglib.tums.ac.ir/pub/

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