title: Congenital cataracts facial dysmorphism neuropathy (CCFDN) syndrome: a rare cause of parainfectious rhabdomyolysis.
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.
authors.affiliation: Department of Neurology, P & A Kyriakou Children's Hospital, Thivon and Levadeias str, 115 27 Athens, Greece. smastr@otenet.gr
authors.forename: Sotiria D
authors.initials: SD
authors.lastname: Mastroyianni
authors.forename: Anastasia
authors.initials: A
authors.lastname: Garoufi
authors.forename: Konstantinos
authors.initials: K
authors.lastname: Voudris
authors.forename: Angeliki
authors.initials: A
authors.lastname: Skardoutsou
authors.forename: Constantinos J
authors.initials: CJ
authors.lastname: Stefanidis
authors.forename: Efstathia
authors.initials: E
authors.lastname: Katsarou
authors.forename: Rebecca
authors.initials: R
authors.lastname: Gooding
authors.forename: Luba
authors.initials: L
authors.lastname: Kalaydjieva
mesh_terms: 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