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A Case of the Non-rhizomelic Chondrodysplasia Punctata

Journal of the Korean Pediatric Society 1995;38(7):1000-1005.
Published online July 15, 1995.
A Case of the Non-rhizomelic Chondrodysplasia Punctata
Son Ill Jin, Kyung Rye Moon, Sang Kee Park, Young Bong Park, Young Suk Kim
Department of Pediatrics, Chosun University Medical College, Kwang-ju, Korea
점상 연골 이형성증(Non - rhizomelic형) 1례
손일진, 문경래, 박상기, 박영봉, 김영숙
조선대학교 의과대학 소아과학교실
Abstract
Chondrodysplasia punctata is a rare congenital disorder of bone, which is characterized by radiographic manifestation of punctate calcification in epiphyseal areas, preformed in cartilage. We experienced a case of the non-rhizomelic chondrodysplasia punctata in a male neonate who showed cataract, saddle nose, stippled calcification on X-ray without coronal cleft of verte-brae and rhizomelia.
Key Words: Chondrodysplasia Punctata, Non-rhizomelic type


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