Neonatal Medicine

The Korean Society of Neonatology (대한신생아학회)
권호 표지

A Case of Jarcho-Levin Syndrome with Fusion of Both Kidneys in a Newborn Infant

신장융합 기형을 동반한 Jarcho-Levin Syndrome 신생아 1례

  • Kim, Jung-Yun (Department of Pediatrics, College of Medicine, Hanyang University) ;
  • Hwang, Seung-Jae (Department of Pediatrics, College of Medicine, Hanyang University) ;
  • Lee, Se-Min (Department of Pediatrics, College of Medicine, Hanyang University) ;
  • Oh, Jae-Won (Department of Pediatrics, College of Medicine, Hanyang University) ;
  • Yum, Myung-Kul (Department of Pediatrics, College of Medicine, Hanyang University) ;
  • Kim, Chang-Ryul (Department of Pediatrics, College of Medicine, Hanyang University)
  • 김정윤 (한양대학교 의과대학 소아과학교실) ;
  • 황승재 (한양대학교 의과대학 소아과학교실) ;
  • 이세민 (한양대학교 의과대학 소아과학교실) ;
  • 오재원 (한양대학교 의과대학 소아과학교실) ;
  • 염명걸 (한양대학교 의과대학 소아과학교실) ;
  • 김창렬 (한양대학교 의과대학 소아과학교실)
  • Published : 2008.05.31

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Abstract

The Jarcho-Levin syndrome is a rare genetic disorder characterized by a short neck, short trunk, and a constricted thorax, and is due to multiple vertebral and rib defects. The small size of the thorax frequently leads to respiratory insufficiency and death in neonates or infants. This syndrome also combines with various kinds of anomalies, especially renal anomalies. We report an infant with Jarcho-Levin syndrome combined with fusion of both kidneys who was referred from a local obstetric clinic for cyanosis and respiratory difficulty.

저자들은 짧은 목과 짧은 흉곽, 경추에서 흉추에 걸쳐 척추열, 척추분절, 척추반측이상, 척추부재 등의 척추기형과 짧은 늑골, 늑골 융합과 늑골의 부재 등의 늑골기형과 함께 우측 신장이 좌측 신장에 융합된 신장기형을 동반한 Jarcho-Levin 증후군 1례를 경험하였기에 문헌 고찰과 함께 보고하는 바이다.

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