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Case Report

Nonrhizomelic Type of Chondrodysplasia Punctata Suspected in the Brothers

Jeum-Su Kim, Hae-Seoung Jung, Yong-Suk Kim, Chan-Hoo Park, Myoung Bum Choi, Hyang-Ok Woo, Hee-Shang Youn

Clin Exp Pediatr. 2001;44(10):1187-1192. Published online October 15, 2001

Chondrodysplasia punctata is a heterogenous skeletal dysplasia characterized by small focal calcifications in articular and other cartilages in infancy, with subsequent epiphysial dysplasia and associated anomalies of the face, eyes, and skin. Chondrodysplasia punctata is classified with autosomal recessive rhizomelic type, autosomal dominant nonrhizomelic type(Conradi-Hunermann type), and X-linked dominant type. These types have different clinical manifestations respectively. We report cases...

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