Saldino-Mainzer syndrome: nephronophthisis, retinitis pigmentosa, and cone-shaped epiphyses.
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.
Mortellaro
Carmen
C
Department of Medical Science, Faculty of Medicine, University of Eastern Piedmont, Novara, Italy. carmenmortellaro@hotmail.com
Bello
Lucilla
L
Pucci
Angela
A
Lucchina
Alberta Greco
AG
Migliario
Mario
M
D001706:Biopsy; D002524:Cerebellar Ataxia / Q000000981:diagnostic imaging / Q000601:surgery; D005260:Female; D006801:Humans; D016030:Kidney Transplantation; D019647:Oral Surgical Procedures; D012174:Retinitis Pigmentosa / Q000000981:diagnostic imaging / Q000601:surgery; D014057:Tomography, X-Ray Computed; D055815:Young Adult