Korean Journal of Pediatrics 2008;51(4):435-438.
Published online April 15, 2008.
Cerebro-oculo-facio-skeletal syndrome : A case report
So Hee Lee1, Seong Jin Hong1, Jung Hwa Lee1, Soo Yun Oh2, Sun Heum Kim3, Duk Hwan Kho4, Kyo Sun Kim1
1Department of Pediatrics, School of Medicine, Konkuk University, Seoul, Korea
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
COFS 증후군 1례
이소희1, 홍성진1, 이정화1, 오수연2, 김순흠3, 고덕환4, 김교순1
1건국대학교 의학전문대학원 소아과학교실
2건국대학교 의학전문대학원 외과학교실
3건국대학교 의학전문대학원 성형외과학교실
4건국대학교 의학전문대학원 정형외과학교실
Correspondence: 
Kyo Sun Kim, Email: kimkyo@kuh.ac.kr
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.
Key Words: Cerebro-oculo-facio-skeletal (COFS) syndrome


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