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http://dx.doi.org/10.3345/kjp.2008.51.4.435

Cerebro-oculo-facio-skeletal syndrome : A case report  

Lee, So Hee (Department of Pediatrics, School of Medicine, Konkuk University)
Hong, Seong Jin (Department of Pediatrics, School of Medicine, Konkuk University)
Lee, Jung Hwa (Department of Pediatrics, School of Medicine, Konkuk University)
Oh, Soo Yun (Department of General Surgery, School of Medicine, Konkuk University)
Kim, Sun Heum (Department of Plastic and Reconstructive Surgery, School of Medicine, Konkuk University)
Kho, Duk Hwan (Department of Orthopedic Surgery, School of Medicine, Konkuk University)
Kim, Kyo Sun (Department of Pediatrics, School of Medicine, Konkuk University)
Publication Information
Clinical and Experimental Pediatrics / v.51, no.4, 2008 , pp. 435-438 More about this Journal
Abstract
The Cerebro-oculo-facio-skeletal (COFS) syndrome is a rare autosomal recessive disorder characterized by multiple abnormalities that involve the brain, face, eyes, and extremities. COFS syndrome is regarded as a degenerative disorder of the brain and spinal cord caused by a mutation of the DNA repair genes. We report on an 8-month-old girl with COFS syndrome who exhibited growth and developmental delay, hypotonia, microcephaly, nystagmus, cleft palate, widely separated nipples, inguinal hernia, camptodactyly, and rocker-bottom feet with vertical talus.
Keywords
Cerebro-oculo-facio-skeletal (COFS) syndrome;
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