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 |
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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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