| A Case of Rhizomelic Chondrodysplasia Punctata Type I |
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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 |
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김달현1, 권영세1, 전용훈1, 홍영진1, 손병관1, 윤혜란2 |
1인하대학교 의과대학 소아과학교실
2서울 의과학연구소 |
Correspondence:
Young Se Kwon, Email: ysped@inha.ac.kr
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| Abstract |
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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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