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Son Ill Jin (Jin SI)

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Case Report

A Case of the Non-rhizomelic Chondrodysplasia Punctata

Son Ill Jin, Kyung Rye Moon, Sang Kee Park, Young Bong Park, Young Suk Kim

Clin Exp Pediatr. 1995;38(7):1000-1005. Published online July 15, 1995

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.

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