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CASE REPORT
Korean J Pediatr 2001 October;44(10) :1187-1192.
Nonrhizomelic Type of Chondrodysplasia Punctata Suspected in the Brothers
Jeum-Su Kim (Kim JS), Hae-Seoung Jung (Jung HS), Yong-Suk Kim (Kim YS), Chan-Hoo Park (Park CH), Myoung Bum Choi (Choi MB), Hyang-Ok Woo (Woo HO), Hee-Shang Youn (Youn HS)
Departments of Pediatrics, College of Medicine, Gyeongsang National University, Chinju, Korea
Copyright © 2001 by The Korean Pediatric Society
ABSTRACT
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 of autosomal dominant type of chondrodysplasia punctata which occurred in brothers, who were presented with typical face(short collumella leading to depressed tip of the nose), punctate calcification on the lumbar spine, dislocation of right hip, no obvious skin lesions, and atropic optic nerve without cataracts.
Keywords: Chondrodysplasia punctata | Nonrhizomelic type
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A Case of Rhizomelic Chondrodysplasia Punctata Occurring in Siblings  2004 September;47(9)
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A Case of the Non-rhizomelic Chondrodysplasia Punctata  1995 July;38(7)
A Case of Rhizomelic Chondrodysplasia Punctata  1994 September;37(9)
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