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KMID : 0363220070450121294
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Korean Journal of Dermatology
2007 Volume.45 No. 12 p.1294 ~ p.1297
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A Case of X-Linked Dominant Chondrodysplasia Punctata
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Choi Woo-Seok
Park Hyun-Su
Jang Sang-Jai
Kang Yoo-Seok
Lee Un-Ha
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Abstract
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X-linked dominant chondrodysplasia punctata is a rare congenital disorder characterized by transient punctate epiphyseal calcifications and ichthyotic skin changes, usually resolving during early infancy. We experienced a baby girl born with a thickened and diffusely red integument with adherent scales following the lines of Blaschko and punctata calcification, flat nose. We report a case of condrodysplasia punctata, X-linked dominant type which was confirmed with gene study.
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KEYWORD
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Ichthyosis, X-Linked dominant chondrodysplasia punctata
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