Τίτλος:
Congenital cataracts facial dysmorphism neuropathy (CCFDN) syndrome: a
rare cause of parainfectious rhabdomyolysis
Γλώσσες Τεκμηρίου:
Αγγλικά
Περίληψη:
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.
Συγγραφείς:
Mastroyianni, Sotiria D.
Garoufi, Anastasia
Voudris,
Konstantinos
Skardoutsou, Angeliki
Stefanidis, Constantinos J.
and Katsarou, Efstathia
Gooding, Rebecca
Kalaydjieva, Luba
Περιοδικό:
European Journal of Pediatrics
Λέξεις-κλειδιά:
congenital cataracts; rhabdomyolysis; myoglobinuria; neuropathy; CCFDN
DOI:
10.1007/s00431-006-0307-9
