Clinical and Experimental Pediatrics

대한소아청소년과학회 (The Korean Pediatric Society)
권호 표지

Young-Simpson 증후군 증례

A Case of Young-Simpson Syndrome

  • 황자영 (가톨릭대학교 의과대학 소아과학교실) ;
  • 서세영 (가톨릭대학교 의과대학 소아과학교실) ;
  • 한승훈 (가톨릭대학교 의과대학 소아과학교실) ;
  • 김소영 (가톨릭대학교 의과대학 소아과학교실) ;
  • 김현희 (가톨릭대학교 의과대학 소아과학교실) ;
  • 이원배 (가톨릭대학교 의과대학 소아과학교실)
  • 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)
  • 투고 : 2005.05.24
  • 심사 : 2005.08.03
  • 발행 : 2005.09.15
PDF 다운로드
⟨ 이전 논문 다음 논문 ⟩

초록

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.

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.

키워드

참고문헌

  1. Young ID, Simpson K. Unknown syndrome : abnormal facies, congenital heart defects, hypothyroidism, and severe retardation. J Med Genet 1987;24:715-6 https://doi.org/10.1136/jmg.24.11.715
  2. Fryns JP, Moerman P. Unknown syndrome : abnormal facies, hypothyroidism, and severe retardation : a second patient. J Med Genet 1988;25:498-9 https://doi.org/10.1136/jmg.25.7.498
  3. Cavalcanti DP. Unknown syndrome : abnormal facies, hypothyroidism, postaxial polydactyly, and severe retardation : a third patient. J Med Genet 1989;26:785-6 https://doi.org/10.1136/jmg.26.12.785
  4. Bonthron DT, Barlow KM, Burt AM, Barr DG. Parental consanguinity in the blepharophimosis, heart defect, hypothyroidism, mental retardation syndrome (Young-Simpson syndrome). J Med Genet 1993;30:255-6 https://doi.org/10.1136/jmg.30.3.255
  5. Nakamura T, Noma S. A Japanese boy with Young-Simpson syndrome. Acta Paediatr Jpn 1997;39:472-4 https://doi.org/10.1111/j.1442-200X.1997.tb03621.x
  6. Masuno M, Imaizumi K, Okada T, Adachi M, Nishimura G, Ishii T, et al. Young-Simpson syndrome : further delineation of a distinct syndrome with congenital hypothyroidism, congenital heart defects, facial dysmorphism, and mental retardation. Am J Med Genet 1999;84:8-11 https://doi.org/10.1002/(SICI)1096-8628(19990507)84:1<8::AID-AJMG2>3.0.CO;2-2
  7. Kondoh T, Kinoshita E, Moriuchi H, Niikawa N, Matsumoto T, Masuno M. Young-Simpson syndrome comprising transient hypothyroidism, normal growth, macular degeneration and torticolis. Am J Med Genet 2000;90:85-6 https://doi.org/10.1002/(SICI)1096-8628(20000103)90:1<85::AID-AJMG17>3.0.CO;2-R
  8. Marques-de-faria AP, Maciel-Guerra AT, Junior GG, Baptista MT. A boy with mental retardation, blepharophimosis and hypothyroidism : a diagnostic dilemma between Young- Simpson and Ohdo syndrome. Clin Dysmorphol 2000;9:199- 204 https://doi.org/10.1097/00019605-200009030-00009
  9. Manaka S, Yamanaka I, Tateda T, Tajiri O. Anesthetic management of a patient with Young-Simpson syndrome. Masui 2002;51:1272-4