Congenital cataracts facial dysmorphism neuropathy (CCFDN) syndrome: a rare cause of parainfectious rhabdomyolysis
Congenital cataracts facial dysmorphism neuropathy (CCFDN) syndrome: a rare cause of parainfectious rhabdomyolysis
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DOI：
10.1007/s00431-006-0307-9
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发表时间：
2007-07-01
影响因子：
3.6
通讯作者：
Kalaydjieva, Luba
中科院分区：
文献类型：
--
作者：
Mastroyianni, Sotiria D.;Garoufi, Anastasia;Kalaydjieva, Luba
先天性白内障-面部畸形-神经病综合征（CCFDN，MIM：604168）是一种新近发现的神经遗传性疾病，可引起横纹肌溶解症的反复发作，横纹肌溶解症的预防和早期诊断应成为该病临床治疗的一部分。
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.