All issues > Volume 45(12); 2002

Case Report

J Korean Pediatr Soc. 2002;45(12):1585-1590. Published online December 15, 2002.

A Case of Rhizomelic Chondrodysplasia Punctata Type I

Dal Hyun DH Kim¹, Young Se YS Kwon¹, Yong Hoon YH Jun¹, Young Jin YJ Hong¹, Byoung Kwan BK Son¹, Hye Ran HR Yoon²

¹Department of Pediatrics, College of Medicine, Inha University, Incheon, Korea
²Seoul Clinical Laboratory, Seoul, Korea

Correspondence Young Se YS Kwon ,Email: ysped@inha.ac.kr

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.

Keywords :Rhizomelic chondrosdysplasia punctata, Biochemical study, Fibroblast, Gene