Korean J Pediatr.
2008 Apr;51(4):435-438. 10.3345/kjp.2008.51.4.435.
Cerebro-oculo-facio-skeletal syndrome: A case report
- Affiliations
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- 1Department of Pediatrics, School of Medicine, Konkuk University, Seoul, Korea. kimkyo@kuh.ac.kr
- 2Department of General Surgery, School of Medicine, Konkuk University, Seoul, Korea.
- 3Department of Plastic and Reconstructive Surgery, School of Medicine, Konkuk University, Seoul, Korea.
- 4Department of Orthopedic Surgery, School of Medicine, Konkuk University, Seoul, Korea.
- KMID: 2280166
- DOI: http://doi.org/10.3345/kjp.2008.51.4.435
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.
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