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

So Hee Lee, Seong Jin Hong, Jung Hwa Lee, Soo Yun Oh, Sun Heum Kim, Duk Hwan Kho, Kyo Sun Kim

Clin Exp Pediatr. 2008;51(4):435-438. Published online April 15, 2008

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,...

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