KMID : 0367419940370091312
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Journal of Korean Pediatric Society 1994 Volume.37 No. 9 p.1312 ~ p.1316
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A Case of Rhizomelic Chondrodysplasia Punctata
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ÀÌ¿¬µ¿
¼Û¹®¿µ/±èÇöÈñ/ÇѽÂÈÆ/ÀÌ¿ø¹è
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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 radiographic manifestation of premature deposition of punctate calcific densitiy in epiphyseal areas, preformed in cartilage.
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.
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