Clinical and Experimental Pediatrics

The Korean Pediatric Society (대한소아청소년과학회)
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A Case of Young-Simpson Syndrome

Young-Simpson 증후군 증례

  • Hwang, Ja-Young (Department of Pediatrics, College of Medicine, The Catholic University of Korea) ;
  • Seo, Se-Young (Department of Pediatrics, College of Medicine, The Catholic University of Korea) ;
  • Hahn, Seong-Hoon (Department of Pediatrics, College of Medicine, The Catholic University of Korea) ;
  • Kim, So-Young (Department of Pediatrics, College of Medicine, The Catholic University of Korea) ;
  • Kim, Hyun-Hee (Department of Pediatrics, College of Medicine, The Catholic University of Korea) ;
  • Lee, Wonbae (Department of Pediatrics, College of Medicine, The Catholic University of Korea)
  • 황자영 (가톨릭대학교 의과대학 소아과학교실) ;
  • 서세영 (가톨릭대학교 의과대학 소아과학교실) ;
  • 한승훈 (가톨릭대학교 의과대학 소아과학교실) ;
  • 김소영 (가톨릭대학교 의과대학 소아과학교실) ;
  • 김현희 (가톨릭대학교 의과대학 소아과학교실) ;
  • 이원배 (가톨릭대학교 의과대학 소아과학교실)
  • Received : 2005.05.24
  • Accepted : 2005.08.03
  • Published : 2005.09.15
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Abstract

Young Simpson syndrome is a rare malformation syndrome characterized by congenital hypothyroidism, dysmorphic face, mental retardation, severe postnatal growth retardation, hypotonia and congenital heart abnormalities. In the present study, we report a case of 4-year-old girl with Young Simpson syndrome for the first case in Korea.

Young Simpson 증후군은 선천성 갑상선 기능 저하, 특이한 얼굴 생김새, 정신 지체, 심한 성장 지연, 근력 저하, 선천성 심장 기형을 특징으로 하는 드문 질환으로 국내에서는 보고된 적이 한 번도 없는 질환이다. 저자들은 Young Simpson 증후군인 4살 여아를 경험하였기에 문헌 고찰과 함께 국내 최초로 보고하는 바이다.

Keywords

References

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