| A Case of Rhizomelic Chondrodysplasia Punctata |
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Yeon Dong Lee, Moon Young Song, Hyun Hi Kim, Seunghoon Han, Wonbae Lee |
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Department of Pediatrics, Catholic University Medical College, seoul, Korea |
| 점상 연골 이형성증(rhizomelic형) 1례 |
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이연동, 송문영, 김현희, 한승훈, 이원배 |
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가톨릭대학교 의과대학 소아과학교실 |
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| Abstract |
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Chondrodysplasia punctata is a rare congenital disorder of bone, occuring in infants, which is characterized by raiographic manifestation of premature deposition of punctate calcific densitiy in epiphyseal areas, preformed in carilage.
We experienced a case of rhizomelic type-chondrodysplsia punctata in a two day old female who showed short stature, symmetric shortening of proximal limbs, cataract, icthyositic skin lesion and characteristic coronal clefts in lumbar vertebral bodies on X-ray. |
| Key Words:
Chondrodysplsia punctata, Rhizomelic type |
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