Congenital cataracts facial dysmorphism neuropathy (CCFDN) syndrome: a rare cause of parainfectious rhabdomyolysis.
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.
Mastroyianni
Sotiria D
SD
Department of Neurology, P & A Kyriakou Children's Hospital, Thivon and Levadeias str, 115 27 Athens, Greece. smastr@otenet.gr
Garoufi
Anastasia
A
Voudris
Konstantinos
K
Skardoutsou
Angeliki
A
Stefanidis
Constantinos J
CJ
Katsarou
Efstathia
E
Gooding
Rebecca
R
Kalaydjieva
Luba
L
D002386:Cataract / Q000151:congenital* / Q000235:genetics; D002675:Child, Preschool; D003025:Clubfoot / Q000235:genetics; D002658:Developmental Disabilities / Q000235:genetics; D005155:Facial Nerve Diseases / Q000151:congenital* / Q000235:genetics; D006801:Humans; D008297:Male; D009123:Muscle Hypotonia / Q000151:congenital / Q000235:genetics; D010291:Paresis / Q000151:congenital / Q000235:genetics; D012021:Reflex, Abnormal / Q000235:genetics; D012206:Rhabdomyolysis / Q000235:genetics*; D013577:Syndrome