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Saldino-Mainzer Syndrome: Nephronophthisis, Retinitis Pigmentosa, and Cone-Shaped Epiphyses

Mortellaro, Carmen MD, DDS*†; Bello, Lucilla MD, DDS; Pucci, Angela MD, PhD; Lucchina, Alberta Greco DDS*; Migliario, Mario MD, DDS*

doi: 10.1097/SCS.0b013e3181ec69bb
Clinical Studies

Saldino-Mainzer syndrome is part of a group disorders, the conorenal syndromes, that are characterized by cone-shaped epiphyses with chronic renal disease in childhood and are variously associated with retinitis pigmentosa, cerebral ataxia, and/or abnormalities of the proximal epiphyses and femur metaphyses. Saldino-Mainzer syndrome usually has sporadic presentation.

The present report shows the unusual findings of a 23-year-old woman, affected by the Saldino-Mainzer syndrome and has undergone kidney transplantation, highlights the possible association with maxillofacial and cephalometric abnormalities.

From the *Department of Medical Science, Faculty of Medicine, University of Eastern Piedmont, Novara; †Oral Surgery Unit, and ‡Histopathology Department, Regina Margherita Paediatric Hospital, Turin, Italy.

Received November 25, 2009.

Accepted for publication December 18, 2009.

Address correspondence and reprint requests to Carmen Mortellaro, MD, DDS, Oral Surgery Unit - Regina Margherita Paediatric Hospital, Via Sacchi 4 Torino, Piazza Polonia 94- 10126 Torino, Italy; E-mail: carmenmortellaro@hotmail.com

The authors report no conflicts of interest.

© 2010 Mutaz B. Habal, MD