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Case Report

A Case of Rhizomelic Chondrodysplasia Punctata Type I

Dal Hyun Kim, Young Se Kwon, Yong Hoon Jun, Young Jin Hong, Byoung Kwan Son, Hye Ran Yoon

Clin Exp Pediatr. 2002;45(12):1585-1590. Published online December 15, 2002

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...

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