Cerebro-oculo-facio-skeletal syndrome: A case report.
10.3345/kjp.2008.51.4.435
- Author:
So Hee LEE
1
;
Seong Jin HONG
;
Jung Hwa LEE
;
Soo Yun OH
;
Sun Heum KIM
;
Duk Hwan KHO
;
Kyo Sun KIM
Author Information
1. Department of Pediatrics, School of Medicine, Konkuk University, Seoul, Korea. kimkyo@kuh.ac.kr
- Publication Type:Case Report
- Keywords:
Cerebro-oculo-facio-skeletal (COFS) syndrome
- MeSH:
Abnormalities, Multiple;
Brain;
Cleft Palate;
Cockayne Syndrome;
DNA Repair;
Extremities;
Eye;
Foot;
Growth and Development;
Hernia, Inguinal;
Humans;
Infant;
Microcephaly;
Muscle Hypotonia;
Nipples;
Spinal Cord;
Talus
- From:Korean Journal of Pediatrics
2008;51(4):435-438
- CountryRepublic of Korea
- Language:English
-
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.
