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Updated: Jun 8, 2026

Spectral Karyotyping to Study Chromosome Abnormalities in Humans and Mice with Polycystic Kidney Disease
Published on: February 3, 2012
Saldino-Mainzer syndrome: nephronophthisis, retinitis pigmentosa, and cone-shaped epiphyses
Carmen Mortellaro1, Lucilla Bello, Angela Pucci
1Department of Medical Science, Faculty of Medicine, University of Eastern Piedmont, Novara, Italy. carmenmortellaro@hotmail.com
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.
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