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

• DOI: 10.1007/s00431-006-0307-9
• Publication Date: 2006-12-29T08:31:09Z
• Authors: Sotiria D. Mastro...; Anastasia Garoufi; Konstantinos Voudris; Angeliki Skardoutsou; Constantinos J. S...; Efstathia Katsarou; Rebecca Gooding; Luba Kalaydjieva
• Keywords: Male; Reflex, Abnormal; Developmental Disabilities; Syndrome; Cataract; Rhabdomyolysis; 3. Good health; Paresis; Clubfoot; 03 medical and health sciences; 0302 clinical medicine; Child, Preschool; Humans; Muscle Hypotonia; Facial Nerve Diseases

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.