Clinical and Experimental Pediatrics

The Korean Pediatric Society (대한소아청소년과학회)
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Cerebro-oculo-facio-skeletal syndrome : A case report

COFS 증후군 1례

  • Lee, So Hee (Department of Pediatrics, School of Medicine, Konkuk University) ;
  • Hong, Seong Jin (Department of Pediatrics, School of Medicine, Konkuk University) ;
  • Lee, Jung Hwa (Department of Pediatrics, School of Medicine, Konkuk University) ;
  • Oh, Soo Yun (Department of General Surgery, School of Medicine, Konkuk University) ;
  • Kim, Sun Heum (Department of Plastic and Reconstructive Surgery, School of Medicine, Konkuk University) ;
  • Kho, Duk Hwan (Department of Orthopedic Surgery, School of Medicine, Konkuk University) ;
  • Kim, Kyo Sun (Department of Pediatrics, School of Medicine, Konkuk University)
  • 이소희 (건국대학교 의학전문대학원 소아과학교실) ;
  • 홍성진 (건국대학교 의학전문대학원 소아과학교실) ;
  • 이정화 (건국대학교 의학전문대학원 소아과학교실) ;
  • 오수연 (건국대학교 의학전문대학원 외과학교실) ;
  • 김순흠 (건국대학교 의학전문대학원 성형외과학교실) ;
  • 고덕환 (건국대학교 의학전문대학원 정형외과학교실) ;
  • 김교순 (건국대학교 의학전문대학원 소아과학교실)
  • Received : 2007.10.15
  • Published : 2008.04.15
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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.

Cerebro-Oculo-Facio-Skeletal (COFS) syndrome은 뇌, 안면, 안구 및 사지의 기형을 특징으로 하는 상염색체 열성 유전 질환이다. COFS 증후군은 DNA-repair gene의 돌연변이로 인한 뇌와 척수의 퇴행성 질환으로 여겨지며, 대뇌, 안구, 안면 및 사지의 복합 기형을 보인다. 국내에서는 신생아기에 진단되어 생후 1개월에 사망한 1례만이 보고 되어 있다. 저자들은 뇌, 안면, 안구, 그리고 사지의 복합 기형을 보여 COFS 증후군으로 진단된 환아를 경험하였으며, 이를 문헌 고찰과 함께 보고한다.

Keywords

References

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