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All issues > Volume 37(9); 1994

Case Report
J Korean Pediatr Soc. 1994;37(9):1312-1316. Published online September 15, 1994.
A Case of Rhizomelic Chondrodysplasia Punctata
Yeon Dong YD Lee1, Moon Young MY Song1, Hyun Hi HH Kim1, Seunghoon Sh Han1, Wonbae Wb Lee1
1Department of Pediatrics, Catholic University Medical College, seoul, Korea
Abstract
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.

Keywords :Chondrodysplsia punctata, Rhizomelic type

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