@article{3117388, title = "Congenital cataracts facial dysmorphism neuropathy (CCFDN) syndrome: a rare cause of parainfectious rhabdomyolysis", author = "Mastroyianni, Sotiria D. and Garoufi, Anastasia and Voudris, and Konstantinos and Skardoutsou, Angeliki and Stefanidis, Constantinos J. and and Katsarou, Efstathia and Gooding, Rebecca and Kalaydjieva, Luba", journal = "European Journal of Pediatrics", year = "2007", volume = "166", number = "7", pages = "747-749", publisher = "Springer-Verlag", issn = "0340-6199, 1432-1076", doi = "10.1007/s00431-006-0307-9", keywords = "congenital cataracts; rhabdomyolysis; myoglobinuria; neuropathy; CCFDN", abstract = "Congenital cataracts-facial dysmorphism-neuropathy syndrome (CCFDN, MIM: 604168), is a recently delineated neurogenetic disease causing recurrent episodes of rhabdomyolysis; prevention and early diagnosis of rhabdomyolysis should be part of the clinical management of the disease." }