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A Case of Rhizomelic Chondrodysplasia Punctata Type I

Journal of the Korean Pediatric Society 2002;45(12):1585-1590.
Published online December 15, 2002.
A Case of Rhizomelic Chondrodysplasia Punctata Type I
Dal Hyun Kim1, Young Se Kwon1, Yong Hoon Jun1, Young Jin Hong1, Byoung Kwan Son1, Hye Ran Yoon2
1Department of Pediatrics, College of Medicine, Inha University, Incheon, Korea
2Seoul Clinical Laboratory, Seoul, Korea
Rhizomelic Chondrodysplasia Punctata I형 1례
김달현1, 권영세1, 전용훈1, 홍영진1, 손병관1, 윤혜란2
1인하대학교 의과대학 소아과학교실
2서울 의과학연구소
Young Se Kwon, Email: ysped@inha.ac.kr
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.
Key Words: Rhizomelic chondrosdysplasia punctata, Biochemical study, Fibroblast, Gene

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