All issues > Volume 51(4); 2008

Case Report

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

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

So Hee SH Lee¹, Seong Jin SJ Hong¹, Jung Hwa JH Lee¹, Soo Yun SY Oh², Sun Heum SH Kim³, Duk Hwan DH Kho⁴, Kyo Sun KS 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

Correspondence Kyo Sun KS 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.

Keywords :Cerebro-oculo-facio-skeletal (COFS) syndrome