TY - JOUR
T1 - Saldino-Mainzer syndrome
T2 - nephronophthisis, retinitis pigmentosa, and cone-shaped epiphyses.
AU - Mortellaro, Carmen
AU - Bello, Lucilla
AU - Pucci, Angela
AU - Lucchina, Alberta Greco
AU - Migliario, Mario
PY - 2010
Y1 - 2010
N2 - 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.
AB - 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.
UR - http://www.scopus.com/inward/record.url?scp=79952279058&partnerID=8YFLogxK
M3 - Article
SN - 1049-2275
VL - 21
SP - 1554
EP - 1556
JO - Journal of Craniofacial Surgery
JF - Journal of Craniofacial Surgery
IS - 5
ER -