A Case of Rhizomelic Chondrodysplasia Punctata Type I.
- Author:
Dal Hyun KIM
1
;
Young Se KWON
;
Yong Hoon JUN
;
Young Jin HONG
;
Byoung Kwan SON
;
Hye Ran YOON
Author Information
1. Department of Pediatrics, College of Medicine, Inha University, Incheon, Korea. ysped@inha.ac.kr
- Publication Type:Case Report
- Keywords:
Rhizomelic chondrosdysplasia punctata;
Biochemical study;
Fibroblast;
Gene
- MeSH:
Cataract;
Chondrodysplasia Punctata, Rhizomelic*;
Complement System Proteins;
Contracture;
Extremities;
Fibroblasts;
Humans;
Joints;
Phytanic Acid
- From:Journal of the Korean Pediatric Society
2002;45(12):1585-1590
- CountryRepublic of Korea
- Language:Korean
-
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.
