Iranian Journal of Pediatrics
Tehran University of Medical Sciences Press
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
© Iranian Journal of Pediatrics
An Unusual Case of Peters Plus Syndrome with Sexual Ambiguity and Absence of Mutations in the B3GALTL Gene|
Siala, Olfa; Belguith, Neila & Fakhfakh, Faiza
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.
Peters-Plus Syndrome; B3GALTL Protein; Human; Facial Dysmorphism with Multiple Malformations; Ambiguous Genitalia
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