Congenital cataracts facial dysmorphism neuropathy (CCFDN) syndrome : a rare cause of parainfectious rhabdomyolysis

S.D. Mastroyianni, A. Garoufi, K. Voudris, A. Skardoutsou, C.J. Stefanidis, E. Katsarou, R.L. Gooding, Luba Kalaydjieva

Research output: Contribution to journalArticlepeer-review

7 Citations (Scopus)

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.
Original languageEnglish
Pages (from-to)747-749
JournalEuropean Journal of Pediatrics
Volume166
Issue number7
DOIs
Publication statusPublished - 2007

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