TY - JOUR
TI - Congenital cataracts facial dysmorphism neuropathy (CCFDN) syndrome: a
rare cause of parainfectious rhabdomyolysis
AU - Mastroyianni, Sotiria D.
AU - Garoufi, Anastasia
AU - Voudris,
AU - Konstantinos
AU - Skardoutsou, Angeliki
AU - Stefanidis, Constantinos J.
AU - and Katsarou, Efstathia
AU - Gooding, Rebecca
AU - Kalaydjieva, Luba
JO - European Journal of Pediatrics
PY - 2007
VL - 166
TODO - 7
SP - 747-749
PB - Springer-Verlag
SN - 0340-6199, 1432-1076
TODO - 10.1007/s00431-006-0307-9
TODO - congenital cataracts; rhabdomyolysis; myoglobinuria; neuropathy; CCFDN
TODO - 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.
ER -