Saldino-Mainzer Syndrome: Nephronophthisis, Retinitis Pigmentosa, and Cone-Shaped Epiphyses : Journal of Craniofacial Surgery

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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*

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Journal of Craniofacial Surgery 21(5):p 1554-1556, September 2010. | DOI: 10.1097/SCS.0b013e3181ec69bb

Abstract

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.

© 2010 Mutaz B. Habal, MD

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