Neonatal Medicine

The Korean Society of Neonatology (대한신생아학회)
권호 표지

A Newborn with Lethal Metatropic Dysplasia

치사성 영양위축성 형성이상 1례

  • Cho, Hye-Jung (Departments of Pediatrics, Graduate School of Medicine, Gachon University of Medicine and Science) ;
  • Hwang, Seon-Tae (Departments of Pediatrics, Graduate School of Medicine, Gachon University of Medicine and Science) ;
  • Lee, Sang-Seon (Departments of Pediatrics, Graduate School of Medicine, Gachon University of Medicine and Science) ;
  • Kim, Jee-Eun (Department of Radiology, Graduate School of Medicine, Gachon University of Medicine and Science) ;
  • Jo, Ae-Ran (NICU of Gil Hospital, Graduate School of Medicine, Gachon University of Medicine and Science) ;
  • Shim, So-Yeon (Departments of Pediatrics, Graduate School of Medicine, Gachon University of Medicine and Science) ;
  • Jeon, In-Sang (Departments of Pediatrics, Graduate School of Medicine, Gachon University of Medicine and Science) ;
  • Son, Dong-Woo (Departments of Pediatrics, Graduate School of Medicine, Gachon University of Medicine and Science)
  • 조혜정 (가천의과학대학교 의학전문대학원 소아과학교실) ;
  • 황선태 (가천의과학대학교 의학전문대학원 소아과학교실) ;
  • 이상선 (가천의과학대학교 의학전문대학원 소아과학교실) ;
  • 김지은 (가천의과학대학교 의학전문대학원 영상의학교실) ;
  • 조애란 (가천의과학대학교 의학전문대학원 길병원 신생아 중환자실) ;
  • 심소연 (가천의과학대학교 의학전문대학원 소아과학교실) ;
  • 전인상 (가천의과학대학교 의학전문대학원 소아과학교실) ;
  • 손동우 (가천의과학대학교 의학전문대학원 소아과학교실)
  • Published : 2010.05.31
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Abstract

Metatropic dysplasia is a rare spondylo epi metaphyseal dysplasia characterized by progressive kyphoscoliosis, short limbs with relatively large hands and feet and limited of motion and enlargement of the large joints. It is diagnosed based on the characteristic clinical and radiological features. Even though benign cases of this disease are frequently reported, metatropic dysplasia can often have a fatal outcome. We describe a sporadic case of the well-delineated lethal metatropic dysplasia.

영양위축성 형성이상은 드물게 발생하는 척추-골단-골중간 형성이상의 일종으로 진행성의 척추측후만증, 운동제한을 동반한 짧은 사지, 비교적 큰 손과 발, 큰 관절들의 비대 등을 특징으로 한다. 이 기형은 특징적인 임상소견과 방사선소견을 통해 진단할 수 있다. 이 기형은 양성 경과를 보인 다수의 증례들이 보고되어 왔고, 소수에서 치명적인 경과를 보이는 증례도 보고되었다. 저자들은 치사성의 영양위축성 형성이상 1례를 경험하였기에 보고하는 바이다.

Keywords

References

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