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European Journal of Pediatrics
Published in: European Journal of Pediatrics 7/2007

01-07-2007 | Short Report

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

Authors: Sotiria D. Mastroyianni, Anastasia Garoufi, Konstantinos Voudris, Angeliki Skardoutsou, Constantinos J. Stefanidis, Efstathia Katsarou, Rebecca Gooding, Luba Kalaydjieva

Published in: European Journal of Pediatrics | Issue 7/2007

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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.
Literature
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Tournev I, Kalaydjeva L, Youl B, Ishpecova B, Guerguelcheva V, Kamenov O, Katzarova M, Kamenov Z, Raicheva-Terzieva M, King RH, Romanski K, Petkov R, Schmarov A, Dimitrova G, Popova N, Uzunova M, Milanov S, Petrova J, Petkov Y, Kolarov G, Aneva L, Radeva O, Thomas PK (1999) Congenital cataracts facial dysmorphism neuropathy syndrome, a novel complex genetic disease in Balkan Gypsies: clinical and electrophysiological observations. Ann Neurol 45(6):742–750PubMedCrossRef
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Varon R, Gooding R, Steglich C, Marns L, Tang H, Angelicheva D, Yong KK, Ambrugger P, Reinhold A, Morar B, Baas F, Kwa M, Tournev I, Guerguelcheva V, Kremensky I, Lochmuller H, Mullner-Eidenboch A, Merlini L, Neumann L, Burger J, Walter Swoboda K, Thomas PK, von Moers A, Risch N, Kalaydjieva L (2003) Partial deficiency of the C-Terminal-domain phosphatase of RNA polymerase II is associated with congenital cataracts facial dysmorphism neuropathy syndrome. Nat Genet 35(2):185–189PubMedCrossRef
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Merlini L, Gooding R, Lochmuller H, Muller-Felber W, Walter MC, Angelicheva D, Talim B, Hallmayer J, Kalaydjieva L (2002) Genetic identity of Marinesco Sjogren/ myoglobinuria and CCFDN syndromes. Neurology 58:231–236PubMed
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Walther JU, Zafiriou D, Jensen M (1991) Malignant hyperthermia and Marinesco-Sjogren syndrome. Lancet 338:1603PubMedCrossRef
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Metadata
Title
Congenital cataracts facial dysmorphism neuropathy (CCFDN) syndrome: a rare cause of parainfectious rhabdomyolysis
Authors
Sotiria D. Mastroyianni
Anastasia Garoufi
Konstantinos Voudris
Angeliki Skardoutsou
Constantinos J. Stefanidis
Efstathia Katsarou
Rebecca Gooding
Luba Kalaydjieva
Publication date
01-07-2007
Publisher
Springer-Verlag
Published in
European Journal of Pediatrics / Issue 7/2007
Print ISSN: 0340-6199
Electronic ISSN: 1432-1076
DOI
https://doi.org/10.1007/s00431-006-0307-9

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