Clinical and Experimental Pediatrics

The Korean Pediatric Society (대한소아청소년과학회)
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A Case of Rhizomelic Chondrodysplasia Punctata Type I

Rhizomelic Chondrodysplasia Punctata I형 1례

  • Kim, Dal Hyun (Department of Pediatrics, College of Medicine, Inha University) ;
  • Kwon, Young Se (Department of Pediatrics, College of Medicine, Inha University) ;
  • Jun, Yong Hoon (Department of Pediatrics, College of Medicine, Inha University) ;
  • Hong, Young Jin (Department of Pediatrics, College of Medicine, Inha University) ;
  • Son, Byoung Kwan (Department of Pediatrics, College of Medicine, Inha University) ;
  • Yoon, Hye Ran (Seoul Clinical Laboratory)
  • 김달현 (인하대학교 의과대학 소아과학교실) ;
  • 권영세 (인하대학교 의과대학 소아과학교실) ;
  • 전용훈 (인하대학교 의과대학 소아과학교실) ;
  • 홍영진 (인하대학교 의과대학 소아과학교실) ;
  • 손병관 (인하대학교 의과대학 소아과학교실) ;
  • 윤혜란 (서울 의과학연구소)
  • Received : 2002.06.19
  • Accepted : 2002.07.27
  • Published : 2002.12.15
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Abstract

Rhizomelic chondrodysplasia punctata(RCDP) is a rare autosomal recessive disorder clinically characterized by symmetrical shortening of the proximal limbs, contractures of joints, a typical dysmorphic face, cataracts, and itchyosis. Patients with RCDP can be subdivided into three subgroups based on biochemical analysis and complementation studies. RCDP type I results from mutations in the PEX7 gene encoding the peroxisomal targeting signal type II(PST2) receptors and presents with both a defect in plasmalogen biosynthesis and phytanic acid oxidation. RCDP type II is deficient in the activity of dihydroxyacetonephosphate acyltransferase(DHAP-AT). RCDP type III is deficient in alkyl-dihydroxyacetonephosphate synthase(alkyl-DHAP). We report a case of RCDP type I which was confirmed with biochemical study, fibroblast culture, and gene study.

저자들은 신생아 시기에 얼굴의 이형성과 사지 근위부 단축으로 입원한 환아에서 생화학검사, 유전자 검사, 섬유아세포 배양으로 국내 최초로 확진된 RCDP 1형 1례를 보고하는 바이다.

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